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La ricerca find articoli where soggetti phrase all words 'MOLECULAR DEFECT' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 79 riferimenti
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    1. Hsu, BYL; Iacobazzi, V; Wang, ZL; Harvie, H; Chalmers, RA; Saudubray, JM; Palmieri, F; Ganguly, A; Stanley, CA
      Aberrant rnRNA splicing associated with coding region mutations in children with carnitine-acylcarnitine translocase deficiency

      MOLECULAR GENETICS AND METABOLISM
    2. Yang, BZ; Mallory, JM; Roe, DS; Brivet, M; Strobel, GD; Jones, KM; Ding, JH; Roe, CR
      Carnitine/acylcarnitine translocase deficiency (neonatal phenotype): Successful prenatal and postmortem diagnosis associated with a novel mutation ina single family

      MOLECULAR GENETICS AND METABOLISM
    3. de Visser, MCH; Poort, SR; Vos, HL; Rosendaal, FR; Bertina, RM
      Factor X levels, polymorphisms in the promoter region of factor X, and therisk of venous thrombosis

      THROMBOSIS AND HAEMOSTASIS
    4. Lopriore, E; Gemke, RJBJ; Verhoeven, NM; Jakobs, C; Wanders, RJA; Roeleveld-Versteeg, ABC; Poll-The, BT
      Carnitine-acylcaraitine translocase deficiency: phenotype, residual enzymeactivity and outcome

      EUROPEAN JOURNAL OF PEDIATRICS
    5. Iijima, K; Murakami, M; Kimura, O; Murakami, F; Shimomura, T; Ikawa, S
      A dysfunctional factor X (factor X Kurayoshi) with a substitution of Arg139 for ser at the carboxyl-terminus of the light chain

      THROMBOSIS RESEARCH
    6. Nicholls, AC; Valler, D; Wallis, S; Pope, FM
      Homozygosity for a splice site mutation of the COL1A2 gene yields a non-functional pro alpha 2(I) chain and an EDS/OI clinical phenotype

      JOURNAL OF MEDICAL GENETICS
    7. Lambert, G; Sakai, N; Vaisman, BL; Neufeld, EB; Marteyn, B; Chan, CC; Paigen, B; Lupia, E; Thomas, A; Striker, LJ; Blanchette-Mackie, J; Csako, G; Brady, JN; Costello, R; Striker, GE; Remaley, AT; Brewer, HB; Santamarina-Fojo, S
      Analysis of glomerulosclerosis and atherosclerosis in lecithin cholesterolacyltransferase-deficient mice

      JOURNAL OF BIOLOGICAL CHEMISTRY
    8. Rosset, J; Wang, J; Wolfe, BM; Dolphin, PJ; Hegele, RA
      Lecithin : cholesterol acyl transferase G30S: association with atherosclerosis, hypoalphalipoproteinemia and reduced in vivo enzyme activity

      CLINICAL BIOCHEMISTRY
    9. Ijlst, L; van Roermund, CWT; Iacobazzi, V; Oostheim, W; Ruiter, JPN; Williams, JC; Palmieri, F; Wanders, RJA
      Functional analysis of mutant human carnitine acylcarnitine translocases in yeast

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    10. Ogawa, A; Yamamoto, S; Kanazawa, M; Takayanagi, M; Hasegawa, S; Kohno, Y
      Identification of two novel mutations of the carnitine/acylcarnitine translocase (CACT) gene in a patient with CACT deficiency

      JOURNAL OF HUMAN GENETICS
    11. Dailey, HA; Dailey, TA; Wu, CK; Medlock, AE; Wang, KF; Rose, JP; Wang, BC
      Ferrochelatase at the millennium: structures, mechanisms and [2Fe-2S] clusters

      CELLULAR AND MOLECULAR LIFE SCIENCES
    12. Roe, DS; Roe, CR; Brivet, M; Sweetman, L
      Evidence for a short-chain carnitine-acylcarnitine translocase in mitochondria specifically related to the metabolism of branched-chain amino acids

      MOLECULAR GENETICS AND METABOLISM
    13. Sanchez-Corral, P; Bellavia, D; Amico, L; Brai, M; de Cordoba, SR
      Molecular basis for factor H and FHL-1 deficiency in an Italian family

      IMMUNOGENETICS
    14. Magness, ST; Tugores, A; Brenner, DA
      Analysis of ferrochelatase expression during hematopoietic development of embryonic stem cells

      BLOOD
    15. Ko, TM; Hwu, WL; Lin, YW; Tseng, LH; Hwa, HL; Wang, TR; Chuang, SM
      Molecular genetic study of Pompe disease in Chinese patients in Taiwan

      HUMAN MUTATION
    16. Magness, ST; Brenner, DA
      Targeted disruption of the mouse ferrochelatase gene producing an exon 10 deletion

      BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
    17. Strijks, E; Poort, SR; Renier, WO; Gabreels, FJM; Bertina, RM
      Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy

      NEUROPEDIATRICS
    18. Peelman, F; Verschelde, JL; Vanloo, B; Ampe, C; Labeur, C; Tavernier, J; Vandekerckhove, J; Rosseneu, M
      Effects of natural mutations in lecithin : cholesterol acyltransferase on the enzyme structure and activity

      JOURNAL OF LIPID RESEARCH
    19. Teh, EM; Chisholm, JW; Dolphin, PJ; Pouliquen, Y; Savoldelli, M; de Gennes, JL; Benlian, P
      Classical LCAT deficiency resulting from a novel homozygous dinucleotide deletion in exon 4 of the human lecithin: cholesterol acyltransferase gene causing a frameshift and stop codon at residue 144

      ATHEROSCLEROSIS
    20. Hunault, M; Arbini, AA; Carew, JA; Bauer, KA
      Mechanism underlying factor VII deficiency in Jewish populations with the Ala(244)Val mutation

      BRITISH JOURNAL OF HAEMATOLOGY
    21. CAMPAGNINI A; FOTI S; JETSCHKESCHMACHTEL M; MACCARRONE G; PRZYBYLSKI M; SALETTI R
      CHARACTERIZATION OF CYANOGEN-BROMIDE FRAGMENTS OF REDUCED HUMAN SERUM-ALBUMIN BY MATRIX-ASSISTED-LASER-DESORPTION IONIZATION MASS-SPECTROMETRY/

      Journal of mass spectrometry
    22. MIYATA T; KOJIMA T; SUZUKI K; UMEYAMA H; YAMAZAKI T; KAMIYA T; TOYODA H; KATO H
      FACTOR-X NAGOYA-1 AND NAGOYA-2 - A CRM- FACTOR-X DEFICIENCY AND A DYSFUNCTIONAL CRM-X DEFICIENCY CHARACTERIZED BY SUBSTITUTION OF ARG306 BYCYS AND OF GLY366 BY SER, RESPECTIVELY( FACTOR)

      Thrombosis and haemostasis
    23. Cox, TM; Alexander, GJM; Sarkany, RPE
      Protoporphyria

      SEMINARS IN LIVER DISEASE
    24. ARGYROPOULOS G; JENKINS A; KLEIN RL; LYONS T; WAGENHORST B; STARMAND J; MARCOVINA SM; ALBERS JJ; PRITCHARD PH; GARVEY WT
      TRANSMISSION OF 2 NOVEL MUTATIONS IN A PEDIGREE WITH FAMILIAL LECITHIN-CHOLESTEROL ACYLTRANSFERASE DEFICIENCY - STRUCTURE-FUNCTION-RELATIONSHIPS AND STUDIES IN A COMPOUND HETEROZYGOUS PROBAND

      Journal of lipid research
    25. REMENYIK E; LANYON GW; HORKAY I; PARAGH G; WIKONKAL N; KOSA A; MOORE MR
      ERYTHROPOIETIC PROTOPORPHYRIA - A NEW MUTATION RESPONSIBLE FOR EXON SKIPPING IN THE HUMAN FERROCHELATASE GENE

      Journal of investigative dermatology
    26. SELLERS VM; WANG KF; JOHNSON MK; DAILEY HA
      EVIDENCE THAT THE 4TH LIGAND TO THE [2FE-2S] CLUSTER IN ANIMAL FERROCHELATASE IS A CYSTEINE - CHARACTERIZATION OF THE ENZYME FROM DROSOPHILA-MELANOGASTER

      The Journal of biological chemistry
    27. LI M; KUIVENHOVEN JA; AYYOBI AF; PRITCHARD PH
      T-]G OR T-]A MUTATION INTRODUCED IN THE BRANCHPOINT CONSENSUS SEQUENCE OF INTRON-4 OF LECITHIN-CHOLESTEROL ACYLTRANSFERASE (LCAT) GENE - INTRON RETENTION CAUSING LCAT DEFICIENCY

      Biochimica et biophysica acta, L. Lipids and lipid metabolism
    28. FERNANDES RJ; WILKIN DJ; WEIS MA; WILCOX WR; COHN DH; RIMOIN DL; EYRE DR
      INCORPORATION OF STRUCTURALLY DEFECTIVE TYPE-II COLLAGEN INTO CARTILAGE MATRIX IN KNIEST CHONDRODYSPLASIA

      Archives of biochemistry and biophysics (Print)
    29. SELLERS VM; DAILEY TA; DAILEY HA
      EXAMINATION OF FERROCHELATASE MUTATIONS THAT CAUSE ERYTHROPOIETIC PROTOPORPHYRIA

      Blood
    30. PERRY DJ
      FACTOR-X AND ITS DEFICIENCY STATES

      Haemophilia
    31. COX TM
      ERYTHROPOIETIC PROTOPORPHYRIA

      Journal of inherited metabolic disease
    32. MINCHIOTTI L; WATKINS S; MADISON J; PUTNAM FW; KRAGHHANSEN U; AMORESANO A; PUCCI P; CESATI R; GALLIANO M
      STRUCTURAL CHARACTERIZATION OF 4 GENETIC-VARIANTS OF HUMAN SERUM-ALBUMIN ASSOCIATED WITH ALLOALBUMINEMIA IN ITALY

      European journal of biochemistry
    33. 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
    34. CHAN V; CHAN VWY; TANG M; LAU K; TODD D
      MOLECULAR DEFECTS IN HB-H HYDROPS-FETALIS

      British Journal of Haematology
    35. LEE YP; ADIMOOLAM S; LIU M; SUBBAIAH PV; GLENN K; JONAS A
      ANALYSIS OF HUMAN LECITHIN-CHOLESTEROL ACYLTRANSFERASE ACTIVITY BY CARBOXYL-TERMINAL TRUNCATION

      Biochimica et biophysica acta, L. Lipids and lipid metabolism
    36. MESSIER TL; WONG CY; BOVILL EG; LONG GL; CHURCH WR
      FACTOR-X STOCKTON - A MILD BLEEDING DIATHESIS ASSOCIATED WITH AN ACTIVE-SITE MUTATION IN FACTOR-X

      Blood coagulation & fibrinolysis
    37. TAKAMIYAGI A; NAKASHIMA Y; IRIFUNE H; UEZATO H; NONAKA S
      QUANTITATIVE-ANALYSIS OF FERROCHELATASE MESSENGER-RNA IN BLOOD-CELLS OF ERYTHROPOIETIC PROTOPORPHYRIA PATIENTS

      Journal of dermatological science
    38. GIANNELLI F; GREEN PM; SOMMER SS; POON MC; LUDWIG M; SCHWAAB R; REITSMA PH; GOOSSENS M; YOSHIOKA A; BROWNLEE GG
      HEMOPHILIA-B (6TH EDITION) - A DATABASE OF POINT MUTATIONS AND SHORT ADDITIONS AND DELETIONS

      Nucleic acids research
    39. GORA M; CHACINSKA A; RYTKA J; LABBEBOIS R
      ISOLATION AND FUNCTIONAL-CHARACTERIZATION OF MUTANT FERROCHELATASES IN SACCHAROMYCES-CEREVISIAE

      Biochimie
    40. KRAGHHANSEN U; PEDERSEN AO; GALLIANO M; MINCHIOTTI L; BRENNAN SO; TARNOKY AL; FRANCO MHLP; SALZANO FM
      HIGH-AFFINITY BINDING OF LAURATE TO NATURALLY-OCCURRING MUTANTS OF HUMAN SERUM-ALBUMIN AND PROALBUMIN

      Biochemical journal
    41. PHILIPPOT V; BERARD F; PERROT H
      HOMOZYGOUS ERYTHROPOIETIC PROTOPORPHYRIA WITH POROKERATOSIS

      Annales de dermatologie et de venereologie
    42. HENRIKSSON M; TIMONEN K; MUSTAJOKI P; PIHLAJA H; TENHUNEN R; PELTONEN L; KAUPPINEN R
      4 NOVEL MUTATIONS IN THE FERROCHELATASE GENE AMONG ERYTHROPOIETIC PROTOPORPHYRIA PATIENTS

      Journal of investigative dermatology
    43. KUIVENHOVEN JA; WEIBUSCH H; PRITCHARD PH; FUNKE H; BENNE R; ASSMANN G; KASTELEIN JJP
      AN INTRONIC MUTATION IN A LARIAT BRANCHPOINT SEQUENCE IS A DIRECT CAUSE OF AN INHERITED HUMAN DISORDER (FISH-EYE DISEASE)

      The Journal of clinical investigation
    44. IMOTO S; TANIZAWA Y; SATO Y; KAKU K; OKA Y
      A NOVEL MUTATION IN THE FERROCHELATASE GENE ASSOCIATED WITH ERYTHROPOIETIC PROTOPORPHYRIA

      British Journal of Haematology
    45. GOERZ G; BUNSELMEYER S; BOLSEN K; SCHURER NY
      FERROCHELATASE ACTIVITIES IN PATIENTS WITH ERYTHROPOIETIC PROTOPORPHYRIA AND THEIR FAMILIES

      British journal of dermatology
    46. OMARCAIGH AS; NICHOLS WL; HASSINGER NL; MULLINS JD; MALLOUH AA; GILCHRIST GS; OWEN WG
      GENETIC-ANALYSIS AND FUNCTIONAL-CHARACTERIZATION OF PROTHROMBINS CORPUS-CHRISTI (ARG382-CYS), DHAHRAN (ARG271-HIS), AND HYPOPROTHROMBINEMIA

      Blood
    47. GOUYA L; DEYBACH JC; LAMORIL J; DASILVA V; BEAUMONT C; GRANDCHAMP B; NORDMANN Y
      MODULATION OF THE PHENOTYPE IN DOMINANT ERYTHROPOIETIC PROTOPORPHYRIABY A LOW EXPRESSION OF THE NORMAL FERROCHELATASE ALLELE

      American journal of human genetics
    48. MIETTINEN H; GYLLING H; MIETTINEN TA; KONTULA K
      2 DIFFERENT ALLELIC MUTATIONS IN A FINNISH FAMILY WITH LECITHIN, CHOLESTEROL ACYLTRANSFERASE DEFICIENCY

      Arteriosclerosis, thrombosis, and vascular biology
    49. MAGNESS ST; BRENNER DA
      FERROCHELATASE CDNA DELIVERED BY ADENOVIRAL VECTOR CORRECTS BIOCHEMICAL DEFECT IN PROTOPORPHYRIC CELLS

      Human gene therapy
    50. WANG XH; POHFITZPATRICK M; CHEN T; MALAVADE K; CARRIERO D; PIOMELLI S
      SYSTEMATIC SCREENING FOR RNA WITH SKIPPED EXONS - SPLICING MUTATIONS OF THE FERROCHELATASE GENE

      Biochimica et biophysica acta. Molecular basis of disease
    51. SCHNEIDERYIN X; SCHAFER BW; TONZ O; MINDER EI
      HUMAN FERROCHELATASE - A NOVEL MUTATION IN PATIENTS WITH ERYTHROPOIETIC PROTOPORPHYRIA AND AN ISOFORM CAUSED BY ALTERNATIVE SPLICING

      Human genetics
    52. NIELSEN LR; SCHEIBEL E; INGERSLEV J; SCHWARTZ M
      DETECTION OF 10 NEW MUTATIONS BY SCREENING THE GENE ENCODING FACTOR-IX OF DANISH HEMOPHILIA-B PATIENTS

      Thrombosis and haemostasis
    53. KUIVENHOVEN JA; VOORST EJGMVT; WIEBUSCH H; MARCOVINA SM; FUNKE H; ASSMANN G; PRITCHARD PH; KASTELEIN JJP; HILL J; ADLER L; ERRRAMI A
      A UNIQUE GENETIC AND BIOCHEMICAL PRESENTATION OF FISH-EYE DISEASE

      The Journal of clinical investigation
    54. KLEIN HG; DUVERGER N; ALBERS JJ; MARCOVINA S; BREWER HB; SANTAMARINAFOJO S
      IN-VITRO EXPRESSION OF STRUCTURAL DEFECTS IN THE LECITHIN-CHOLESTEROLACYLTRANSFERASE GENE

      The Journal of biological chemistry
    55. MEHLUM A; STAELS B; DUVERGER N; TAILLEUX A; CASTRO G; FIEVET C; LUC G; FRUCHART JC; OLIVECRONA G; SKRETTING G; AUWERX J; PRYDZ H
      TISSUE-SPECIFIC EXPRESSION OF THE HUMAN GENE FOR LECITHIN-CHOLESTEROLACYLTRANSFERASE IN TRANSGENIC MICE ALTERS BLOOD-LIPIDS, LIPOPROTEINS AND LIPASES TOWARDS A LESS ATHEROGENIC PROFILE

      European journal of biochemistry
    56. MINCHIOTTI L; GALLIANO M; KRAGHHANSEN U; WATKINS S; MADISON J; PUTNAM FW
      A GENETIC VARIANT OF ALBUMIN (ALBUMIN ASOLA, TYR140-]CYS) WITH NO FREE -SH GROUP BUT WITH AN ADDITIONAL DISULFIDE BRIDGE

      European journal of biochemistry
    57. JAROLIM P; WICHTERLE H; HANSPAL M; MURRAY J; RUBIN HL; PALEK J
      BETA-SPECTRIN(PRAGUE) - A TRUNCATED BETA-SPECTRIN PRODUCING SPECTRIN DEFICIENCY, DEFECTIVE SPECTRIN HETERODIMER SELF-ASSOCIATION AND A PHENOTYPE OF SPHEROCYTIC ELLIPTOCYTOSIS

      British Journal of Haematology
    58. FISICHELLA S; FOTI S; MACCARRONE G; SALETTI R
      TRYPTIC PEPTIDE-MAPPING OF SEQUENCE-299-585 OF HUMAN SERUM-ALBUMIN BYHIGH-PERFORMANCE LIQUID-CHROMATOGRAPHY AND FAST-ATOM-BOMBARDMENT MASS-SPECTROMETRY

      Journal of chromatography
    59. YAWATA A; KANZAKI A; UEHIRA K; YAWATA Y
      A SURFACE REPLICA METHOD - A USEFUL TOOL FOR STUDIES OF THE CYTOSKELETAL NETWORK IN RED-CELL MEMBRANES OF NORMAL SUBJECTS AND PATIENTS WITHA BETA-SPECTRIN MUTANT (SPECTRIN LE-PUY BETA(220 214))/

      Virchows Archiv
    60. WANG XH; POHFITZPATRICK M; PIOMELLI S
      A NOVEL SPLICING MUTATION IN THE FERROCHELATASE GENE RESPONSIBLE FOR ERYTHROPOIETIC PROTOPORPHYRIA

      Biochimica et biophysica acta. Molecular basis of disease
    61. MARECHAL J; WADA H; KOFFA T; KANZAKI A; WILMOTTE R; IKOMA K; YAWATA A; INOUE T; TAKANASHI K; MIURA A; ALLOISIO N; DELAUNAY J; YAWATA Y
      HEREDITARY ELLIPTOCYTOSIS ASSOCIATED WITH SPECTRIN LE PUY IN A JAPANESE FAMILY - ULTRASTRUCTURAL ASPECT OF THE RED-CELL SKELETON

      European journal of haematology
    62. POORT SR; MICHIELS JJ; REITSMA PH; BERTINA RM
      HOMOZYGOSITY FOR A NOVEL MISSENSE MUTATION IN THE PROTHROMBIN GENE CAUSING A SEVERE BLEEDING DISORDER

      Thrombosis and haemostasis
    63. GIANNELLI F; GREEN PM; SOMMER SS; LILLICRAP DP; LUDWIG M; SCHWAAB R; REITSMA PH; GOOSSENS M; YOSHIOKA A; BROWNLEE GG
      HEMOPHILIA-B - DATABASE OF POINT MUTATIONS AND SHORT ADDITIONS AND DELETIONS, 5TH EDITION, 1994

      Nucleic acids research
    64. OKUDA M; KOHNO H; FURUKAWA T; TOKUNAGA R; TAKETANI S
      OVEREXPRESSION IN ESCHERICHIA-COLI, AND ONE-STEP PURIFICATION OF THE HUMAN RECOMBINANT FERROCHELATASE

      Biochimica et biophysica acta (G). General subjects
    65. KOHNO H; OKUDA M; FURUKAWA T; TOKUNAGA R; TAKETANI S
      SITE-DIRECTED MUTAGENESIS OF HUMAN FERROCHELATASE - IDENTIFICATION OFHISTIDINE-263 AS A BINDING-SITE FOR METAL-IONS

      Biochimica et biophysica acta. Protein structure and molecular enzymology
    66. MADISON J; GALLIANO M; WATKINS S; MINCHIOTTI L; PORTA F; ROSSI A; PUTNAM FW
      GENETIC-VARIANTS OF HUMAN SERUM-ALBUMIN IN ITALY - POINT MUTANTS AND A CARBOXYL-TERMINAL VARIANT

      Proceedings of the National Academy of Sciences of the United Statesof America
    67. RADER DJ; IKEWAKI K; DUVERGER N; SCHMIDT H; PRITCHARD H; FROHLICH J; CLERC M; DUMON MF; FAIRWELL T; ZECH L; SANTAMARINAFOJO S; BREWER HB
      MARKEDLY ACCELERATED CATABOLISM OF APOLIPOPROTEIN A-II (APOA-II) AND HIGH-DENSITY-LIPOPROTEINS CONTAINING APOA-II IN CLASSIC LECITHIN - CHOLESTEROL ACYLTRANSFERASE DEFICIENCY AND FISH-EYE DISEASE

      The Journal of clinical investigation
    68. TUGORES A; MAGNESS ST; BRENNER DA
      A SINGLE PROMOTER DIRECTS BOTH HOUSEKEEPING AND ERYTHROID PREFERENTIAL EXPRESSION OF THE HUMAN FERROCHELATASE GENE

      The Journal of biological chemistry
    69. SCHMIDT HHJ; DIEKSTALL FF; BOJANOVSKI D; MANNS MP
      FISH EYE DISEASE

      Deutsche Medizinische Wochenschrift
    70. TODD DJ; HUGHES AE; ENNIS KT; WARD AJ; BURROWS D; NEVIN NC
      IDENTIFICATION OF A SINGLE-BASE PAIR DELETION (40 DEL-G) IN EXON-1 OFTHE FERROCHELATASE GENE IN PATIENTS WITH ERYTHROPOIETIC PROTOPORPHYRIA

      Human molecular genetics
    71. GIANNELLI F; GREEN PM; HIGH KA; SOMMER S; POON MC; LUDWIG M; SCHWAAB R; REITSMA PH; GOOSSENS M; YOSHIOKA A; BROWNLEE GG
      HEMOPHILIA-B - DATABASE OF POINT MUTATIONS AND SHORT ADDITIONS AND DELETIONS - 4TH EDITION, 1993

      Nucleic acids research
    72. WILMOTTE R; MARECHAL J; MORLE L; BAKLOUTI F; PHILIPPE N; KASTALLY R; KOTULA L; DELAUNAY J; ALLOISIO N
      LOW EXPRESSION ALLELE-ALPHA(LELY) OF RED-CELL SPECTRIN IS ASSOCIATED WITH MUTATIONS IN EXON-40 (ALPHA(V 41)-POLYMORPHISM) AND INTRON-45 ANDWITH PARTIAL SKIPPING OF EXON-46/

      The Journal of clinical investigation
    73. SAHR KE; COETZER TL; MOY LS; DERICK LH; CHISTI AH; JAROLIM P; LORENZO F; DELGIUDICE EM; IOLASCON A; GALLANELLO R; CAO A; DELAUNAY J; LIU SC; PALEK J
      SPECTRIN CAGLIARI - AN ALA -] GLY SUBSTITUTION IN HELIX-1 OF BETA-SPECTRIN REPEAT-17 THAT SEVERELY DISRUPTS THE STRUCTURE AND SELF-ASSOCIATION OF THE ERYTHROCYTE SPECTRIN HETERODIMER

      The Journal of biological chemistry
    74. KOTULA L; DESILVA TM; SPEICHER DW; CURTIS PJ
      FUNCTIONAL-CHARACTERIZATION OF RECOMBINANT HUMAN RED-CELL ALPHA-SPECTRIN POLYPEPTIDES CONTAINING THE TETRAMER BINDING-SITE

      The Journal of biological chemistry
    75. MORIYAMA R; LOMBARDO CR; WORKMAN RF; LOW PS
      REGULATION OF LINKAGES BETWEEN THE ERYTHROCYTE-MEMBRANE AND ITS SKELETON BY 2,3-DIPHOSPHOGLYCERATE

      The Journal of biological chemistry
    76. MINCHIOTTI L; GALLIANO M; ZAPPONI MC; TENNI R
      THE STRUCTURAL CHARACTERIZATION AND BILIRUBIN-BINDING PROPERTIES OF ALBUMIN HERBORN, A [LYS240-]GLU] ALBUMIN MUTANT

      European journal of biochemistry
    77. SAVVIDES P; SHALEV O; JOHN KM; LUX SE
      COMBINED SPECTRIN AND ANKYRIN DEFICIENCY IS COMMON IN AUTOSOMAL-DOMINANT HEREDITARY SPHEROCYTOSIS

      Blood
    78. DIPAOLO BR; SPEICHER KD; SPEICHER DW
      IDENTIFICATION OF THE AMINO-ACID MUTATIONS ASSOCIATED WITH HUMAN ERYTHROCYTE SPECTRIN-ALPHA-II DOMAIN POLYMORPHISMS

      Blood
    79. GALLIANO M; MINCHIOTTI L; IADAROLA P; STOPPINI M; GIAGNONI P; WATKINS S; MADISON J; PUTNAM FW
      PROTEIN AND DNA-SEQUENCE ANALYSIS OF A PRIVATE GENETIC VARIANT - ALBUMIN-ORTONOVO (GLU-505-]LYS)

      Biochimica et biophysica acta


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Documento generato il 18/01/21 alle ore 03:01:16