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    1. Bowen, B; Hawk, JJ; Sibunka, S; Hovick, S; Weiler, JM
      A review of the reported defects in the human C1 esterase inhibitor gene producing hereditary angioedema including four new mutations

      CLINICAL IMMUNOLOGY
    2. Li, CM; Cha, HK; Liu, YF; Su, TS
      A nonsense mutation is responsible for the RNA-negative phenotype in humancitrullinaemia

      EUROPEAN JOURNAL OF HUMAN GENETICS
    3. Meuleman, J; Pou-Serradell, A; Lofgren, A; Ceuterick, C; Martin, JJ; Timmerman, V; Van Broeckhoven, C; De Jonghe, P
      A novel 3 '-splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies

      NEUROMUSCULAR DISORDERS
    4. Ryoo, YW; Kim, BC; Lee, KS
      Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients

      JOURNAL OF DERMATOLOGICAL SCIENCE
    5. Baumann, G
      Growth hormone binding protein 2001

      JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
    6. Triggs-Raine, B; Mahuran, DJ; Gravel, RA
      Naturally occurring mutations in G(M2) gangliosidosis: A compendium

      TAY-SACHS DISEASE
    7. Iida, H; Nakahara, M; Komori, K; Fujise, M; Wakiyama, M; Urata, M; Kinoshita, S; Tsuda, H; Sugimachi, K; Hamasaki, N
      Failure in the detection of aberrant mRNA from the heterozygotic splice site mutant allele for protein S in a patient with protein S deficiency

      THROMBOSIS RESEARCH
    8. Salerno, M; Balestrieri, B; Matrecano, E; Officioso, A; Rosenfeld, RG; Di Maio, S; Fimiani, G; Ursini, MV; Pignata, C
      Abnormal GH receptor signaling in children with idiopathic short stature

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    9. Takamiya, O; Okimoto, Y
      Severe factor VII deficiency with recurrent intracranial haemorrhages owing to double heterozygosity for a splice site mutation of an IVS4 and a novel nonsense mutation in exon 8 (Gln211 -> Term)

      BRITISH JOURNAL OF HAEMATOLOGY
    10. Nordal, EJ; Mecklenbeck, S; Hausser, I; Skranes, J; Bruckner-Tuderman, L; Gedde-Dahl, T
      Generalized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets

      BRITISH JOURNAL OF DERMATOLOGY
    11. Rosenbloom, AL
      Physiology and disorders of the growth hormone receptor (GHR) and GH-GHR signal transduction

      ENDOCRINE
    12. Shinomiya, N; Kanegane, H; Watanabe, A; Yamaguchi, Y; Futatani, T; Miyawaki, T
      Point mutation in intron 11 of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia

      PEDIATRICS INTERNATIONAL
    13. Shaiu, WL; Kishnani, PS; Shen, JJ; Liu, HM; Chen, YT
      Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease

      MOLECULAR GENETICS AND METABOLISM
    14. von Laue, S; Ross, RJM
      Inflammatory cytokines and acquired growth hormone resistance

      GROWTH HORMONE & IGF RESEARCH
    15. Lopez-Bermejo, A; Buckway, CK; Rosenfeld, RG
      Genetic defects of the growth hormone-insulin-like growth factor axis

      TRENDS IN ENDOCRINOLOGY AND METABOLISM
    16. Attie, KM
      Genetic studies in idiopathic short stature

      CURRENT OPINION IN PEDIATRICS
    17. Hamlington, JD; Clough, MV; Dunston, JA; McIntosh, I
      Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    18. Choi, C; Kim, KC; Kim, HO; Cho, SH; Lee, JB; Kim, IS; Park, KK; Cho, NH; Juhng, SW
      Androgen receptor gene mutation identified by PCR-SSCP and sequencing in 4patients with complete androgen insensitivity syndrome

      ARCHIVES OF GYNECOLOGY AND OBSTETRICS
    19. Lim, J; Ghadessy, FJ; Abdullah, AAR; Pinsky, L; Trifiro, M; Yong, EL
      Human androgen receptor mutation disrupts ternary interactions between ligand, receptor domains, and the coactivator TIF2 (transcription intermediaryfactor 2)

      MOLECULAR ENDOCRINOLOGY
    20. Yong, EL; Lim, J; Qi, W; Ong, V; Mifsud, A
      Molecular basis of androgen receptor diseases

      ANNALS OF MEDICINE
    21. Cheadle, JP; Reeve, MP; Sampson, JR; Kwiatkowski, DJ
      Molecular genetic advances in tuberous sclerosis

      HUMAN GENETICS
    22. Drousiotou, A; Stylianidou, G; Anastasiadou, V; Christopoulos, G; Mavrikiou, E; Georgiou, T; Kalakoutis, G; Oladimeji, A; Hara, Y; Suzuki, K; Furihata, K; Ueno, I; Ioannou, PA; Fensom, AH
      Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community

      HUMAN GENETICS
    23. Johnston, LB; Pashankar, F; Camacho-Hubner, C; Savage, MO; Clark, AJL
      Analysis of the intracellular signalling domain of the human growth hormone receptor in children with idiopathic short stature

      CLINICAL ENDOCRINOLOGY
    24. Yu, HW; Tint, GS; Salen, G; Patel, SB
      Detection of a common mutation in the RSH or Smith-Lemli-Opitz syndrome bya PCR-RFLP assay: IVS8-1G -> C is found in over sixty percent of US propositi

      AMERICAN JOURNAL OF MEDICAL GENETICS
    25. Anikster, Y; Lucero, C; Guo, JR; Huizing, M; Shotelersuk, V; Bernardini, I; McDowell, G; Iwata, F; Kaiser-Kupfer, MI; Jaffe, R; Thoene, J; Schneider, JA; Gahl, WA
      Ocular nonnephropathic cystinosis: Clinical, biochemical, and molecular correlations

      PEDIATRIC RESEARCH
    26. Joutel, A; Chabriat, H; Vahedi, K; Domenga, V; Vayssiere, C; Ruchoux, MM; Lucas, C; Leys, D; Bousser, MG; Tournier-Lasserve, E
      Splice site mutation causing a seven amino acid Notch3 in-frame deletion in CADASIL

      NEUROLOGY
    27. Amit, T; Youdim, MBH; Hochberg, Z
      Does serum growth hormone (GH) binding protein reflect human GH receptor function?

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    28. Lombardi, MP; Redeker, EJW; Defesche, JC; Kamerling, SWA; Trip, MD; Mannens, MMAM; Havekes, LM; Kastelein, JJP
      Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands

      CLINICAL GENETICS
    29. Harteveld, CL; Beijer, C; van Delft, P; Zanardini, R; Bernini, LF; Giordano, PC
      alpha-Thalassaemia as a result of a novel splice donor site mutation of the alpha(1)-globin gene

      BRITISH JOURNAL OF HAEMATOLOGY
    30. Walker, LC; Marini, JC; Grange, DK; Filie, J; Yeowell, HN
      A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene

      MOLECULAR GENETICS AND METABOLISM
    31. Savage, MO; Woods, KA; Johnston, LB; Postel-Vinay, MC; Amselem, S; Clark, AJL
      Defects of the growth hormone receptor and their clinical implications

      GROWTH HORMONE & IGF RESEARCH
    32. Bertolini, S; Cassanelli, S; Garuti, R; Ghisellini, M; Simone, ML; Rolleri, M; Masturzo, P; Calandra, S
      Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia

      ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
    33. Gardella, R; Zoppi, N; Ferraboli, S; Marini, D; Tadini, G; Barlati, S; Colombi, M
      Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: Analysis of transcript levels in dermal fibroblasts

      HUMAN MUTATION
    34. Hastbacka, J; Kerrebrock, A; Mokkala, K; Clines, G; Lovett, M; Kaitila, I; de la Chapelle, A; Lander, ES
      Identification of the Finnish founder mutation for diastrophic dysplasia (DTD)

      EUROPEAN JOURNAL OF HUMAN GENETICS
    35. Rugg, EL; Rachet-Prehu, MO; Rochat, A; Barrandon, Y; Goossens, M; Lane, EB; Hovnanian, A
      Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex

      EUROPEAN JOURNAL OF HUMAN GENETICS
    36. Mustapha, M; Weil, D; Chardenoux, S; Elias, S; El-Zir, E; Beckmann, JS; Loiselet, J; Petit, C
      An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21

      HUMAN MOLECULAR GENETICS
    37. Ogorelkova, M; Gruber, A; Utermann, G
      Molecular basis of congenital Lp(a) deficiency: a frequent apo(a) 'null' mutation in Caucasians

      HUMAN MOLECULAR GENETICS
    38. Hellwinkel, OJC; Bull, K; Holterhus, PM; Homburg, N; Struve, D; Hiort, O
      Complete androgen insensitivity caused by a splice donor site mutation in intron 2 of the human androgen receptor gene resulting in an exon 2-lackingtranscript with premature stop-codon and reduced expression

      JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY
    39. Bruckner-Tuderman, L; Hopfner, B; Hammami-Hauasli, N
      Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa

      MATRIX BIOLOGY
    40. Mahuran, DJ
      Biochemical consequences of mutations causing the GM2 gangliosidoses

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    41. Jonkman, MF
      Hereditary skin diseases of hemidesmosomes

      JOURNAL OF DERMATOLOGICAL SCIENCE
    42. Bruckner-Tuderman, L
      Hereditary skin diseases of anchoring fibrils

      JOURNAL OF DERMATOLOGICAL SCIENCE
    43. Mellerio, JE; Salas-alanis, JC; Amaya-Guerra, M; Tamez, E; Ashton, GHS; Mohammedi, R; Eady, RAJ; McGrath, JA
      A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa

      EXPERIMENTAL DERMATOLOGY
    44. Vorwerk, P; Christoffersen, CT; Muller, J; Vestergaard, H; Pedersen, O; De Meyts, P
      Alternative splicing of exon 17 and a missense mutation in exon 20 of the insulin receptor gene in two brothers with a novel syndrome of insulin resistance (congenital fiber-type disproportion myopathy)

      HORMONE RESEARCH
    45. Clayton, PE; Freeth, JS; Norman, MR
      Congenital growth hormone insensitivity syndromes and their relevance to idiopathic short stature

      CLINICAL ENDOCRINOLOGY
    46. Reiss, J; Christensen, E; Dorche, C
      Molybdenum cofactor deficiency: First prenatal genetic analysis

      PRENATAL DIAGNOSIS
    47. Klose, A; Peters, H; Hoffmeyer, S; Buske, A; Luder, A; Hess, D; Lehmann, R; Nurnberg, P; Tinschert, S
      Two independent mutations in a family with neurofibromatosis type 1 (NF1)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    48. Whittock, NV; Ashton, GHS; Mohammedi, R; Mellerio, JE; Mathew, CG; Abbs, SJ; Eady, RAJ; McGrath, JA
      Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    49. Hull, KL; Harvey, S
      Growth hormone resistance: clinical states and animal models

      JOURNAL OF ENDOCRINOLOGY
    50. Iida, K; Takahashi, Y; Kaji, H; Onodera, N; Takahashi, MO; Okimura, Y; Abe, H; Chihara, K
      The C422F mutation of the growth hormone receptor gene is not responsible for short stature

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    51. Rosenbloom, AL
      IGF-I deficiency due to GH receptor deficiency

      HORMONE AND METABOLIC RESEARCH
    52. Jones, AC; Shyamsundar, MM; Thomas, MW; Maynard, J; Idziaszczyk, S; Tomkins, S; Sampson, JR; Cheadle, JP
      Comprehensive mutation analysis of TSC1 and TSC2 - and phenotypic correlations in 150 families with tuberous sclerosis

      AMERICAN JOURNAL OF HUMAN GENETICS
    53. ONEIL JP; ROGAN PK; CARIELLO N; NICKLAS JA
      MUTATIONS THAT ALTER RNA SPLICING OF THE HUMAN HPRT GENE - A REVIEW OF THE SPECTRUM

      Mutation research. Reviews in mutation research
    54. GALLIONE CJ; KLAUS DJ; YEH EY; STENZEL TT; XUE Y; ANTHONY KB; MCALLISTER KA; BALDWIN MA; BERG JN; LUX A; SMITH JD; VARY CPH; CRAIGEN WJ; WESTERMANN CJJ; WARNER ML; MILLER YE; JACKSON CE; GUTTMACHER AE; MARCHUK DA
      MUTATION AND EXPRESSION ANALYSIS OF THE ENDOGLIN GENE IN HEREDITARY HEMORRHAGIC TELANGIECTASIA REVEALS NULL ALLELES

      Human mutation
    55. BERGTHORSSON JT; JONASDOTTIR A; JOHANNESDOTTIR G; ARASON A; EGILSSON V; GAYTHER S; BORG A; HAKANSON S; INGVARSSON S; BARKARDOTTIR RB
      IDENTIFICATION OF A NOVEL SPLICE-SITE MUTATION OF THE BRCA1 GENE IN 2BREAST-CANCER FAMILIES - SCREENING REVEALS LOW-FREQUENCY IN ICELANDICBREAST-CANCER PATIENTS

      Human mutation
    56. KANTERS JK; LARSEN LA; ORHOLM M; AGNER E; ANDERSEN PS; VUUST J; CHRISTIANSEN M
      NOVEL DONOR SPLICE-SITE MUTATION IN THE KVLQT1 GENE IS ASSOCIATED WITH LONG QT SYNDROME

      Journal of cardiovascular electrophysiology
    57. Bernini, LF; Harteveld, CL
      alpha-thalassaemia

      BAILLIERES CLINICAL HAEMATOLOGY
    58. CSERHALMIFRIEDMAN PB; BADEN H; BURGESON RE; CHRISTIANO AM
      MOLECULAR-BASIS OF NONLETHAL JUNCTIONAL EPIDERMOLYSIS-BULLOSA - IDENTIFICATION OF A 38 BASEPAIR INSERTION AND A SPLICE-SITE MUTATION IN EXON-14 OF THE LAMB3 GENE

      Experimental dermatology
    59. SANTAMARINAFOJO S
      THE FAMILIAL CHYLOMICRONEMIA SYNDROME

      Endocrinology and metabolism clinics of North America
    60. BEAUFRERE L; RIEU S; HACHE JC; DUMUR V; CLAUSTRES M; TUFFERY S
      ALTERED REP-1 EXPRESSION DUE TO SUBSTITUTION AT POSITION--DONOR SITE OF THE CHOROIDEREMIA (CHM) GENE(3 OF THE IVS13 SPLICE)

      Current eye research (Print)
    61. HOFFMAN JD; HALLAM SE; VENNE VL; LYON E; WARD K
      IMPLICATIONS OF A NOVEL CRYPTIC SPLICE-SITE IN THE BRCA1 GENE

      American journal of medical genetics
    62. KON A; PULKKINEN L; ISHIDAYAMAMOTO A; HASHIMOTO I; UITTO J
      NOVEL COL7A1 MUTATIONS IN DYSTROPHIC FORMS OF EPIDERMOLYSIS-BULLOSA

      Journal of investigative dermatology
    63. Hammami-Hauasli, N; Raghunath, M; Kuster, W; Bruckner-Tuderman, L
      Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations

      JOURNAL OF INVESTIGATIVE DERMATOLOGY
    64. MERKE DP; TAJIMA T; CHHABRA A; BARNES K; MANCILLA E; BARON J; CUTLER GB
      NOVEL CYP11B1 MUTATIONS IN CONGENITAL ADRENAL-HYPERPLASIA DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY

      The Journal of clinical endocrinology and metabolism
    65. Wang, Q; Ghadessy, FJ; Trounson, A; de Kretser, D; McLachlan, R; Ng, SC; Yong, EL
      Azoospermia associated with a mutation in the ligand-binding domain of an androgen receptor displaying normal ligand binding, but defective trans-activation

      JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
    66. WANG Q; GHADESSY FJ; YONG EL
      ANALYSIS OF THE TRANSACTIVATION DOMAIN OF THE ANDROGEN RECEPTOR IN PATIENTS WITH MALE-INFERTILITY

      Clinical genetics
    67. MELLERIO JE; SALASALANIS JC; TALAMANTES ML; HORN H; TIDMAN MJ; ASHTON GHS; EADY RAJ; MCGRATH JA
      A RECURRENT GLYCINE SUBSTITUTION MUTATION, G2043R, IN THE TYPE-VII COLLAGEN GENE (COL7A1) IN DOMINANT DYSTROPHIC EPIDERMOLYSIS-BULLOSA

      British journal of dermatology
    68. GAL A; APFELSTEDTSYLLA E; JANECKE AR; ZRENNER E
      RHODOPSIN MUTATIONS IN INHERITED RETINAL DYSTROPHIES AND DYSFUNCTIONS

      Progress in retinal and eye research
    69. JOBERT S; BRAGADONILSSON E; SAMOLYK D; PEDESPAN JM; MARCHAL C; REICHERT S; MALLET J; PITIOT G
      DELETION OF 11 AMINO-ACIDS IN TUBERIN ASSOCIATED WITH SEVERE TUBEROUSSCLEROSIS PHENOTYPES - EVIDENCE FOR A NEW ESSENTIAL DOMAIN IN THE FIRST 3RD OF THE PROTEIN

      European journal of human genetics
    70. TAN P; ALLEN JG; WILTON SD; AKKARI PA; HUXTABLE CR; LAING NG
      A SPLICE-SITE MUTATION CAUSING OVINE MCARDLES-DISEASE

      Neuromuscular disorders
    71. FUKUDA S; YAMADA N; TOMATSU S; SUKEGAWA K; MONTANO AM; HOPWOOD JJ; MULLER V; ORII T; KONDO N
      MUCOPOLYSACCHARIDOSIS-IVA - A NOVEL SPLICE ACCEPTOR SITE MUTATION IN INTRON-4 OF THE N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE GENE IN AN AFGHANISTAN GIRL WITH CLASSICAL MORQUIO-DISEASE

      Japanese journal of human genetics
    72. ATTAIE A; KIM E; WILCOX ER; LALWANI AK
      A SPLICE-SITE MUTATION AFFECTING THE PAIRED BOX OF PAX3 IN A 3 GENERATION FAMILY WITH WAARDENBURG SYNDROME TYPE-I (WS1)

      Molecular and cellular probes
    73. VARRET M; RABES JP; BOILEAU C
      FAMILIAL HYPERCHOLESTEROLEMIA 25 YEARS AF TER .1. LDL RECEPTOR DEFECTS

      MS. Medecine sciences
    74. CSERHALMIFRIEDMAN PB; KARPATI S; HORVATH A; CHRISTIANO AM
      IDENTIFICATION OF A GLYCINE SUBSTITUTION AND A SPLICE-SITE MUTATION IN THE TYPE-VII COLLAGEN GENE IN A PROBAND WITH MITIS RECESSIVE DYSTROPHIC EPIDERMOLYSIS-BULLOSA

      Archives of dermatological research
    75. VARRET M; RABES JP; COLLODBEROUD G; JUNIEN C; BOILEAU C; BEROUD C
      SOFTWARE AND DATABASE FOR THE ANALYSIS OF MUTATIONS IN THE HUMAN LDL RECEPTOR GENE

      Nucleic acids research
    76. LIM J; GHADESSY FJ; YONG EL
      A NOVEL SPLICE-SITE MUTATION IN THE ANDROGEN RECEPTOR GENE RESULTS INEXON SKIPPING AND A NONFUNCTIONAL TRUNCATED PROTEIN

      Molecular and cellular endocrinology
    77. MUSTAFA S; PABINGER I; VARADI K; HALBMAYER WM; LECHNER K; SCHWARZ HP; FISCHER M; MANNHALTER C
      A HITHERTO UNKNOWN SPLICE-SITE DEFECT IN THE PROTEIN-S GENE (PROS1) -THE MUTATION RESULTS IN ALLELIC EXCLUSION AND CAUSES TYPE-I AND TYPE-III PROTEIN-S DEFICIENCY

      British Journal of Haematology
    78. MUSTAFA S; PABINGER I; MANNHALTER C
      A FREQUENT MUTATION IN THE PROTEIN-S GENE RESULTS IN CRYPTIC SPLICING

      British Journal of Haematology
    79. BASSERES DS; PRANKE PHL; SALES TSI; COSTA FF; SAAD STO
      BETA-SPECTRIN CAMPINAS - A NOVEL SHORTENED BETA-CHAIN VARIANT ASSOCIATED WITH SKIPPING OF EXON-30 AND HEREDITARY ELLIPTOCYTOSIS

      British Journal of Haematology
    80. GALLAGHER PG; FORGET BG
      HEMATOLOGICALLY IMPORTANT MUTATIONS - SPECTRIN VARIANTS IN HEREDITARYELLIPTOCYTOSIS AND HEREDITARY PYROPOIKILOCYTOSIS

      Blood cells, molecules, & diseases
    81. MAILLET P; ALLOISIO N; MORLE L; DELAUNAY J
      SPECTRIN MUTATIONS IN HEREDITARY ELLIPTOCYTOSIS AND HEREDITARY SPHEROCYTOSIS

      Human mutation
    82. NISSEN H; GULDBERG P; HANSEN AB; PETERSEN NE; HORDER M
      CLINICALLY APPLICABLE MUTATION SCREENING IN FAMILIAL HYPERCHOLESTEROLEMIA

      Human mutation
    83. STATES JC; MYRAND SP
      SPLICE-SITE MUTATIONS IN A XERODERMA-PIGMENTOSUM GROUP-A PATIENT WITHDELAYED-ONSET OF NEUROLOGICAL DISEASE

      Mutation research. DNA repair
    84. OKUMIYA T; TAKENAKA T; ISHII S; KASE R; KAMEI S; SAKURABA H
      2 NOVEL MUTATIONS IN THE ALPHA-GALACTOSIDASE GENE IN JAPANESE CLASSICAL HEMIZYGOTES WITH FABRY DISEASE

      Japanese journal of human genetics
    85. SORIA JM; BERG LP; FONTCUBERTA J; KAKKAR VV; ESTIVILL X; COOPER DN; SALA N
      ECTOPIC TRANSCRIPT ANALYSIS INDICATES THAT ALLELIC EXCLUSION IS AN IMPORTANT CAUSE OF TYPE-I PROTEIN-C DEFICIENCY IN PATIENTS WITH NONSENSEAND FRAMESHIFT MUTATIONS IN THE PROC GENE

      Thrombosis and haemostasis
    86. WILLIAMS CJ; GANGULY A; CONSIDINE E; MCCARRON S; PROCKOP DJ; WALSHVOCKLEY C; MICHELS VV
      A(-2)-]G TRANSITION AT THE 3'-ACCEPTOR SPLICE-SITE OF IVS17 CHARACTERIZES THE COL2A1 GENE MUTATION IN THE ORIGINAL STICKLER SYNDROME KINDRED

      American journal of medical genetics
    87. BARTOLO C; PAPP AC; SNYDER PJ; SEDRA MS; BURGHES AHM; HALL CD; MENDELL JR; PRIOR TW
      A NOVEL SPLICE-SITE MUTATION IN A BECKER MUSCULAR-DYSTROPHY PATIENT

      Journal of Medical Genetics
    88. VANBAEL M; NATOWICZ MR; TOMCZAK J; GREBNER EE; PRENCE EM
      HETEROZYGOSITY FOR TAY-SACHS-DISEASE IN NON-JEWISH AMERICANS WITH ANCESTRY FROM IRELAND OR GREAT-BRITAIN

      Journal of Medical Genetics
    89. RIES S; ASLANIDIS C; FEHRINGER P; CAREL JC; GENDREL D; SCHMITZ G
      A NEW MUTATION IN THE GENE FOR LYSOSOMAL ACID LIPASE LEADS TO WOLMAN-DISEASE IN AN AFRICAN KINDRED

      Journal of lipid research
    90. FRANCESCHINI G
      APOLIPOPROTEIN FUNCTION IN HEALTH AND DISEASE - INSIGHTS FROM NATURALMUTATIONS

      European journal of clinical investigation
    91. JENSEN HK; JENSEN LG; HANSEN PS; BOLUND L; FAERGEMAN O; GREGERSEN N
      A G(-1)-TO-A ACCEPTOR SPLICE-SITE LDLR MUTANT ALLELE LEADS TO REDUCEDRELATIVE TRANSCRIPT LEVELS IN PATIENTS WITH HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

      Clinical genetics
    92. DELAUNAY J; ALLOISIO N; MORLE L; BAKLOUTI F; DALLAVENEZIA N; MAILLET P; WILMOTTE R
      MOLECULAR-GENETICS OF HEREDITARY ELLIPTOCYTOSIS AND HEREDITARY SPHEROCYTOSIS

      Annales de genetique
    93. PERRY DJ
      ECTOPIC TRANSCRIPT ANALYSIS IN HUMAN ANTITHROMBIN DEFICIENCY

      Blood coagulation & fibrinolysis
    94. ROSSENEU M; LABEUR C
      PHYSIOLOGICAL SIGNIFICANCE OF APOLIPOPROTEIN MUTANTS

      The FASEB journal
    95. LUDWIG L; JANSSEN JWG; BARTRAM CR
      EXON TRAP ANALYSIS OF A NF1 SPLICE-SITE MUTATION IN A CHRONIC MYELOMONOCYTIC LEUKEMIA PATIENT

      Leukemia
    96. AIACH M; GANDRILLE S; EMMERICH J
      A REVIEW OF MUTATIONS CAUSING DEFICIENCIES OF ANTITHROMBIN, PROTEIN-CAND PROTEIN-S

      Thrombosis and haemostasis
    97. REITSMA PH; BERNARDI F; DOIG RG; GANDRILLE S; GREENGARD JS; IRELAND H; KRAWCZAK M; LIND B; LONG GL; POORT SR; SAITO H; SALA N; WITT I; COOPER DN
      PROTEIN-C DEFICIENCY - A DATABASE OF MUTATIONS, 1995 UPDATE

      Thrombosis and haemostasis
    98. ROSENFELD PJ; HAHN LB; SANDBERG MA; DRYJA TP; BERSON EL
      LOW INCIDENCE OF RETINITIS-PIGMENTOSA AMONG HETEROZYGOUS CARRIERS OF A SPECIFIC RHODOPSIN SPLICE-SITE MUTATION

      Investigative ophthalmology & visual science
    99. STRAUSS AW; POWELL CK; HALE DE; ANDERSON MM; AHUJA A; BRACKETT JC; SIMS HF
      MOLECULAR-BASIS OF HUMAN MITOCHONDRIAL VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY CAUSING CARDIOMYOPATHY AND SUDDEN-DEATH IN CHILDHOOD

      Proceedings of the National Academy of Sciences of the United Statesof America
    100. AMEIS D; BROCKMANN G; KNOBLICH R; MERKEL M; OSTLUND RE; YANG JW; COATES PM; CORTNER JA; FEINMAN SV; GRETEN H
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ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/10/20 alle ore 15:03:12