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La ricerca find articoli where soggetti phrase all words 'EPISODES MELAS' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 73 riferimenti
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    1. Iwasaki, N; Babazono, T; Tsuchiya, K; Tomonaga, O; Suzuki, A; Togashi, M; Ujihara, N; Sakka, Y; Yokokawa, H; Ogata, M; Nihei, H; Iwamoto, Y
      Prevalence of A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene in Japanese patients with diabetes mellitus and end stage renal disease

      JOURNAL OF HUMAN GENETICS
    2. Ko, CH; Lam, CW; Tse, PWT; Kong, CK; Chan, AKH; Wong, LJC
      De novo mutation in the mitochondrial tRNA(Leu(UUR)) gene (A3243G) with rapid segregation resulting in MELAS in the offspring

      JOURNAL OF PAEDIATRICS AND CHILD HEALTH
    3. Okhuijsen-Kroes, EJ; Trijbels, JMF; Sengers, RCA; Mariman, E; van den Heuvel, LP; Wendel, U; Koch, G; Smeitink, JAM
      Infantile presentation of the mtDNA A3243G tRNA(Leu(UUR)) mutation

      NEUROPEDIATRICS
    4. De Kremer, RD; Paschini-Capra, A; Bacman, S; Argarana, C; Civallero, G; Kelley, RI; Guelbert, N; Latini, A; de Halac, IN; Giner-Ayala, A; Johnston, J; Proujansky, R; Gonzalez, I; Depetris-Boldini, C; Oller-Ramirez, A; Angaroni, C; Theaux, RA; Hliba, E; Juaneda, E
      Barth's syndrome-like disorder: A new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Tzen, CY; Tsai, JD; Wu, TY; Chen, BF; Chen, ML; Lin, SP; Chen, SC
      Tubulointerstitial nephritis associated with a novel mitochondrial point mutation

      KIDNEY INTERNATIONAL
    6. Solano, A; Playan, A; Lopez-Perez, MJ; Montoya, J
      Genetic diseases of the mitochondrial DNA.

      SALUD PUBLICA DE MEXICO
    7. Ohkubo, K; Yamano, A; Nagashima, M; Mori, Y; Anzai, K; Akehi, Y; Nomiyama, R; Asano, T; Urae, A; Ono, J
      Mitochondrial gene mutations in the tRNA(Leu(UUR)) region and diabetes: Prevalence and clinical phenotypes in Japan

      CLINICAL CHEMISTRY
    8. Iwanaga, R; Koga, Y; Aramaki, S; Kato, S; Kato, H
      Inter- and/or intra-organ distribution of mitochondrial C3303T or A3243G mutation in mitochondrial cytopathy

      ACTA NEUROPATHOLOGICA
    9. Lien, LM; Lee, HC; Wang, KL; Chiu, JC; Chiu, HC; Wei, YH
      Involvement of nervous system in maternally inherited diabetes and deafness (MIDD) with the A3243G mutation of mitochondrial DNA

      ACTA NEUROLOGICA SCANDINAVICA
    10. Lorda-Sanchez, I; Garcia-Ruiz, PJ; De Alba, MR; Montoya, J; Playan, A; Sarasa, JL; Trujillo, MJ; Sanz, R; Ramos, C; Ayuso, C
      A MELAS phenotype and a paternal inherited inversion of chromosome 10 in afemale patient

      GENETIC COUNSELING
    11. Tanaka, K; Takada, Y; Matsunaka, T; Yuyama, S; Fujino, S; Maguchi, M; Yamashita, S; Yuba, I
      Diabetes mellitus, deafness, muscle weakness and hypocalcemia in a patientwith an A3243G mutation of the mitochondrial DNA

      INTERNAL MEDICINE
    12. Drouet, A; Guilloton, L; Godinot, C; Rochet, D; Ribot, C; Carrier, H
      Complicated diabetes-deafness syndrome or association with a MELAS syndrome, in a patient harboring the mitochondrial DNA mutation at position 3243?

      REVUE NEUROLOGIQUE
    13. Peng, NJ; Liu, RS; Li, JY; Tsay, DG; Kong, KW; Kwok, CG; Strauss, HW
      Increased cerebral blood flow in MELAS shown by Tc-99m HMPAO brain SPECT

      NEURORADIOLOGY
    14. Liou, CW; Huang, CC; Tsai, JL; Liu, JY; Pang, CY; Lee, HC; Wang, EK; Wei, YH
      Absence of maternal A3243G mtDNA mutation and reversible hyperglycemia in a patient with MELAS syndrome

      ACTA NEUROLOGICA SCANDINAVICA
    15. Fujimoto, S; Mizuno, K; Shibata, H; Kanayama, M; Kobayashi, M; Sugiyama, N; Ban, K; Ishikawa, T; Itoh, T; Togari, H; Wada, Y
      Serial electroencephalographic findings in patients with MELAS

      PEDIATRIC NEUROLOGY
    16. Castro-Gago, M; Alonso, A; Pintos-Martinez, E; Beiras-Iglesias, A; Campos, Y; Arenas, J; Novo-Rodriguez, MI; Eiris-Punal, J
      Congenital hydranencephalic-hydrocephalic syndrome associated with mitochondrial dysfunction

      JOURNAL OF CHILD NEUROLOGY
    17. Pulkes, T; Eunson, L; Patterson, V; Siddiqui, A; Wood, NW; Nelson, IP; Morgan-Hughes, JA; Hanna, MG
      The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

      ANNALS OF NEUROLOGY
    18. Haan, J; Terwindt, GM; Maassen, JA; 't Hart, LM; Frants, RR; Ferrari, MD
      Search for mitochondrial DNA mutations in migraine subgroups

      CEPHALALGIA
    19. Shoffner, JM
      Oxidative phosphorylation disease diagnosis

      SEMINARS IN NEUROLOGY
    20. Vilarinho, L; Santorelli, FM; Coelho, I; Rodrigues, L; Maia, M; Barata, I; Cabral, P; Dionisio, A; Costa, A; Guimaraes, A; DiMauro, S
      The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    21. Abe, K; Matsuo, Y; Kadekawa, J; Inoue, S; Yanagihara, T
      Effect of coenzyme Q10 in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): Evaluation by noninvasive tissue oximetry

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    22. Sue, CM; Bruno, C; Andreu, AL; Cargan, A; Mendell, JR; Tsao, CY; Luquette, M; Paolicchi, J; Shanske, S; DiMauro, S; De Vivo, DC
      Infantile encephalopathy associated with the MELAS A3243G mutation

      JOURNAL OF PEDIATRICS
    23. Karvonen, SL; Haapasaari, KM; Kallioinen, M; Oikarinen, A; Hassinen, IE; Majamaa, K
      Increased prevalence of vitiligo, but no evidence of premature ageing, in the skin of patients with bp 3243 mutation in mitochondrial DNA in the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS)

      BRITISH JOURNAL OF DERMATOLOGY
    24. ISASHIKI Y; NAKAGAWA M; OHBA N; KAMIMURA K; SAKODA Y; HIGUCHI I; IZUMO S; OSAME M
      RETINAL MANIFESTATIONS IN MITOCHONDRIAL DISEASES ASSOCIATED WITH MITOCHONDRIAL-DNA MUTATION

      Acta ophthalmologica Scandinavica
    25. SHIN CS; KIM SK; PARK KS; KIM WB; KIM SY; CHO BY; LEE HK; KOH CS; SHIN CH; LEE JB
      A NEW POINT MUTATION (3426-A TO 3426-G) IN MITOCHONDRIAL NADH DEHYDROGENASE GENE IN KOREAN DIABETIC-PATIENTS WHICH MIMICS 3243-MUTATION BY RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM PATTERN

      Endocrine journal
    26. HUANG CN; JEE SH; HWANG JJ; KUO YF; CHUANG LM
      AUTOIMMUNE IDDM IN A SPORADIC MELAS PATIENT WITH MITOCHONDRIAL TRNA(LEU(UUR)) MUTATION

      Clinical endocrinology
    27. DREIER JP; KORNER K; EBERT N; GORNER A; RUBIN I; BACK T; LINDAUER U; WOLF T; VILLRINGER A; EINHAUPL KM; LAURITZEN M; DIRNAGL U
      NITRIC-OXIDE SCAVENGING BY HEMOGLOBIN OR NITRIC-OXIDE SYNTHASE INHIBITION BY N-NITRO-L-ARGININE INDUCES CORTICAL SPREADING ISCHEMIA WHEN K+IS INCREASED IN THE SUBARACHNOID SPACE

      Journal of cerebral blood flow and metabolism
    28. OZAWA M; NONAKA I; GOTO Y
      SINGLE MUSCLE-FIBER ANALYSIS IN PATIENTS WITH 3243-MUTATION IN MITOCHONDRIAL-DNA - COMPARISON WITH THE PHENOTYPE AND THE PROPORTION OF MUTANT GENOME

      Journal of the neurological sciences
    29. TAKAHASHI S; TOHGI H; YONEZAWA H; OBARA S; NAGANE Y
      CEREBRAL BLOOD-FLOW AND OXYGEN-METABOLISM BEFORE AND AFTER A STROKE-LIKE EPISODE IN PATIENTS WITH MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC-ACIDOSIS AND STROKE-LIKE EPISODES (MELAS)

      Journal of the neurological sciences
    30. KATO T; MURASHITA J; SHIOIRI T; TERADA M; INUBUSHI T; KATO N
      PHOTIC STIMULATION-INDUCED ALTERATION OF BRAIN ENERGY-METABOLISM MEASURED BY P-31-MR SPECTROSCOPY IN PATIENTS WITH MELAS

      Journal of the neurological sciences
    31. Sue, CM; Quigley, A; Katsabanis, S; Kapsa, R; Crimmins, DS; Byrne, E; Morris, JGL
      Detection of MELAS A3243G point mutation in muscle, blood and hair follicles

      JOURNAL OF THE NEUROLOGICAL SCIENCES
    32. THOMEER EC; VERHOEVEN WMA; VANDEVLASAKKER CJW; KLOMPENHOUWER JL
      PSYCHIATRIC-SYMPTOMS IN MELAS - A CASE-REPORT

      Journal of Neurology, Neurosurgery and Psychiatry
    33. HIRAI M; SUZUKI S; ONODA M; HINOKIO Y; HIRAI A; OHTOMO M; CHIBA M; KASUGA S; HIRAI S; SATOH Y; AKAI H; MIYABAYASHI S; TOYOTA T
      MITOCHONDRIAL DEOXYRIBONUCLEIC-ACID 3256C-T MUTATION IN A JAPANESE FAMILY WITH NONINSULIN-DEPENDENT DIABETES-MELLITUS

      The Journal of clinical endocrinology and metabolism
    34. DAMIAN MS; HERTEL A; SEIBEL P; REICHMANN H; BACHMANN G; SCHACHENMAYR W; HOER G; DORNDORF W
      FOLLOW-UP IN CARRIERS OF THE MELAS MUTATION WITHOUT STROKES

      European neurology
    35. SUZUKI S; HINOKIO Y; OHTOMO M; HIRAI M; HIRAI A; CHIBA M; KASUGA S; SATOH Y; AKAI H; TOYOTA T
      THE EFFECTS OF COENZYME Q(10) TREATMENT ON MATERNALLY INHERITED DIABETES-MELLITUS AND DEAFNESS, AND MITOCHONDRIAL-DNA 3243 (A TO G) MUTATION

      Diabetologia
    36. CHINNERY PE; HOWELL N; LIGHTOWLERS RN; TURNBULL DM
      MELAS AND MERRF - THE RELATIONSHIP BETWEEN MATERNAL MUTATION LOAD ANDTHE FREQUENCY OF CLINICALLY AFFECTED OFFSPRING

      Brain (Print)
    37. TAYLOR RW; TAYLOR GA; MORRIS CM; EDWARDSON JM; TURNBULL DM
      DIAGNOSIS OF MITOCHONDRIAL DISEASE - ASSESSMENT OF MITOCHONDRIAL-DNA HETEROPLASMY IN BLOOD

      Biochemical and biophysical research communications (Print)
    38. PAVLAKIS SG; KINGSLEY PB; KAPLAN GP; STACPOOLE PW; OSHEA M; LUSTBADER D
      MAGNETIC-RESONANCE SPECTROSCOPY - USE IN MONITORING MELAS TREATMENT

      Archives of neurology
    39. KIMATA KG; GORDAN L; AJAX ET; DAVIS PH; GRABOWSKI T
      A CASE OF LATE-ONSET MELAS

      Archives of neurology
    40. SEKI A; NISHINO I; GOTO Y; MAEGAKI Y; KOEDA T
      MITOCHONDRIAL ENCEPHALOMYOPATHY WITH 15915-MUTATION - CLINICAL REPORT

      Pediatric neurology
    41. BONTE CA; MATTHIJS GL; CASSIMAN JJ; LEYS AM
      MACULAR PATTERN DYSTROPHY IN PATIENTS WITH DEAFNESS AND DIABETES

      Retina
    42. ABAD MM; COTTER PD; FODOR FH; LARSON S; GINSBERGFELLNER F; DESNICK RJ; ABDENUR JE
      SCREENING FOR THE MITOCHONDRIAL-DNA A3243G MUTATION IN CHILDREN WITH INSULIN-DEPENDENT DIABETES-MELLITUS

      Metabolism, clinical and experimental
    43. SUZUKI Y; GOTO Y; TANIYAMA M; NONAKA I; MURAKAMI N; HOSOKAWA K; ASAHINA T; ATSUMI Y; MATSUOKA K
      MUSCLE HISTOPATHOLOGY IN DIABETES-MELLITUS ASSOCIATED WITH MITOCHONDRIAL TRANSFER-RNA(LEU(UUR)) MUTATION AT POSITION-3243

      Journal of the neurological sciences
    44. VILARINHO L; SANTORELLI FM; ROSAS MJ; TAVARES C; MELOPIRES M; DIMAURO S
      THE MITOCHONDRIAL A3243G MUTATION PRESENTING AS SEVERE CARDIOMYOPATHY

      Journal of Medical Genetics
    45. ONISHI H; KAWANISHI C; IWASAWA T; OSAKA H; HANIHARA T; INOUE K; YAMADA Y; KOSAKA K
      DEPRESSIVE DISORDER DUE TO MITOCHONDRIAL TRANSFER RNA(LEU(UUR)) MUTATION

      Biological psychiatry
    46. CAMPOS Y; MARTIN MA; RUBIO JC; DELOLMO MCG; CABELLO A; ARENAS J
      BILATERAL STRIATAL NECROSIS AND MELAS ASSOCIATED WITH A NEW T3308C MUTATION IN THE MITOCHONDRIAL ND1 GENE

      Biochemical and biophysical research communications
    47. HARRISON TJ; BOLES RG; JOHNSON DR; LEBLOND C; WONG LJC
      MACULAR PATTERN RETINAL DYSTROPHY, ADULT-ONSET DIABETES, AND DEAFNESS- A FAMILY STUDY OF A3243G MITOCHONDRIAL HETEROPLASMY

      American journal of ophthalmology
    48. MANFREDI G; SCHON EA; BONILLA E; MORAES CT; SHANSKE S; DIMAURO S
      IDENTIFICATION OF A MUTATION IN THE MITOCHONDRIAL TRNA(CYS) GENE ASSOCIATED WITH MITOCHONDRIAL ENCEPHALOPATHY

      Human mutation
    49. STRAUSS AW
      DEFECTS OF MITOCHONDRIAL PROTEINS AND PEDIATRIC HEART-DISEASE

      Progress in pediatric cardiology
    50. SERRA G; PICCINNU R; TONDI M; MUNTONI F; ZEVIANI M; MASTROPAOLO C
      CLINICAL AND EEG FINDINGS IN 11 PATIENTS AFFECTED BY MITOCHONDRIAL ENCEPHALOMYOPATHY WITH MERRF-MELAS OVERLAP

      Brain & development
    51. TAYLOR RW; CHINNERY PF; HALDANE F; MORRIS AAM; BINDOFF LA; WILSON J; TURNBULL DM
      MELAS ASSOCIATED WITH A MUTATION IN THE VALINE TRANSFER-RNA GENE OF MITOCHONDRIAL-DNA

      Annals of neurology
    52. OHNO K; YAMAMOTO M; ENGEL AG; HARPER CM; ROBERTS LR; TAN GH; FATOURECHI V
      MELAS-TYPE AND KEARNS-SAYRE-TYPE COMMUTATION WITH MYOPATHY AND AUTOIMMUNE POLYENDOCRINOPATHY

      Annals of neurology
    53. KISHNANI PS; VANHOVE JLK; SHOFFNER JS; KAUFMAN A; BOSSEN EH; KAHLER SG
      ACUTE-PANCREATITIS IN AN INFANT WITH LACTIC-ACIDOSIS AND A MUTATION AT NUCLEOTIDE-3243 IN THE MITOCHONDRIAL-DNA TRNA(LEU(UUR)) GENE

      European journal of pediatrics
    54. SANO M; OZAWA M; SHIOTA S; MOMOSE Y; UCHIGATA M; GOTO Y
      THE T-C-(8356) MITOCHONDRIAL-DNA MUTATION IN A JAPANESE FAMILY

      Journal of neurology
    55. FEIGENBAUM A; CHITAYAT D; ROBINSON B; MACGREGOR D; MYINT T; ARBUS G; NOWACZYK MJM
      THE EXPANDING CLINICAL PHENOTYPE OF THE TRNA(LEU(UUR)) A-]G MUTATION AT NP-3243 OF MITOCHONDRIAL-DNA - DIABETIC EMBRYOPATHY ASSOCIATED WITHMITOCHONDRIAL CYTOPATHY

      American journal of medical genetics
    56. CAMPOS Y; MARTIN MA; LORENZO G; APARICIO M; CABELLO A; ARENAS J
      SPORADIC MERRF MELAS OVERLAP SYNDROME-ASSOCIATED WITH THE 3243-TRNA(LEU(UUR)) MUTATION OF MITOCHONDRIAL-DNA/

      Muscle & nerve
    57. SHOFFNER JM
      MATERNAL INHERITANCE AND THE EVALUATION OF OXIDATIVE-PHOSPHORYLATION DISEASES

      Lancet
    58. IKEJIRI Y; MORI E; ISHII K; NISHIMOTO K; YASUDA M; SASAKI M
      IDEBENONE IMPROVES CEREBRAL MITOCHONDRIAL OXIDATIVE-METABOLISM IN A PATIENT WITH MELAS

      Neurology
    59. ISASHIKI Y; OHBA N; HOKITA N; SAKAMOTO Y; UEMURA A; NAKAGAWA M; OSAME M; IZUMO S
      ASSESSMENT OF MITOCHONDRIAL GENE IN PROLIFERATIVE VITREORETINAL TISSUES FROM PATIENTS WITH FAMILIAL DIABETES-MELLITUS

      Japanese Journal of Ophthalmology
    60. KAIDO M; FUJIMURA H; SOGA F; TOYOOKA K; YOSHIKAWA H; NISHIMURA T; HIGASHI T; INUI K; IMANISHI H; YORIFUJI S; YANAGIHARA T
      ALZHEIMER-TYPE PATHOLOGY IN A PATIENT WITH MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC-ACIDOSIS AND STROKE-LIKE EPISODES (MELAS)

      Acta Neuropathologica
    61. SHOFFNER JM; KAUFMAN A; KOONTZ D; KRAWIECKI N; SMITH E; TOPP M; WALLACE DC
      OXIDATIVE-PHOSPHORYLATION DISEASES AND CEREBELLAR-ATAXIA

      Clinical neuroscience
    62. VEGGIOTTI P; COLAMARIA V; DALLABERNARDINA B; MARTELLI A; MANGIONE D; LANZI G
      EPILEPSIA PARTIALIS CONTINUA IN A CASE OF MELAS - CLINICAL AND NEUROPHYSIOLOGICAL STUDY

      Neurophysiologie clinique
    63. MOLNAR M; NEUDECKER S; SCHRODER JM
      INCREASE OF MITOCHONDRIA IN VASA NERVORUM OF CASES WITH MITOCHONDRIALMYOPATHY, KEARNS-SAYRE SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIAAND MELAS

      Neuropathology and applied neurobiology
    64. TANNO Y; YONEDA M; TANAKA K; TANAKA H; YAMAZAKI M; NISHIZAWA M; WAKABAYASHI K; OHAMA E; TSUJI S
      QUANTITATION OF HETEROPLASMY OF MITOCHONDRIAL TRNA(LEU(UUR)) GENE USING PCR-SSCP

      Muscle & nerve
    65. MOUDY AM; HANDRAN SD; GOLDBERG MP; RUFFIN N; KARL I; KRANZEBLE P; DEVIVO DC; ROTHMAN SM
      ABNORMAL CALCIUM HOMEOSTASIS AND MITOCHONDRIAL POLARIZATION IN A HUMAN ENCEPHALOMYOPATHY

      Proceedings of the National Academy of Sciences of the United Statesof America
    66. CHEN CM; HUANG CC
      GONADAL DYSFUNCTION IN MITOCHONDRIAL ENCEPHALOMYOPATHIES

      European neurology
    67. KISHIMOTO M; HASHIRAMOTO M; ARAKI S; ISHIDA Y; KAZUMI T; KANDA F; KASUGA M
      DIABETES-MELLITUS CARRYING A MUTATION IN THE MITOCHONDRIAL TRNA(LEU(UUR)) GENE

      Diabetologia
    68. KOTSIMBOS N; JEANFRANCOIS MJB; HUIZING M; KAPSA RMI; LERTRIT P; SIREGAR NC; MARZUKI S; SUE C; BYRNE E
      RAPID AND NONINVASIVE SCREENING OF PATIENTS WITH MITOCHONDRIAL MYOPATHY

      Human mutation
    69. LERTRIT P; KAPSA RMI; JEANFRANCOIS MJB; THYAGARAJAN D; NOER AS; MARZUKI S; BYRNE E
      MITOCHONDRIAL-DNA POLYMORPHISM IN DISEASE - A POSSIBLE CONTRIBUTOR TORESPIRATORY DYSFUNCTION

      Human molecular genetics
    70. JUN AS; BROWN MD; WALLACE DC
      A MITOCHONDRIAL-DNA MUTATION AT NUCLEOTIDE PAIR-14459 OF THE NADH DEHYDROGENASE SUBUNIT-6 GENE ASSOCIATED WITH MATERNALLY INHERITED LEBER HEREDITARY OPTIC NEUROPATHY AND DYSTONIA

      Proceedings of the National Academy of Sciences of the United Statesof America
    71. VANDENOUWELAND JMW; LEMKES HHPJ; TREMBATH RC; ROSS R; VELHO G; COHEN D; FROGUEL P; MAASSEN JA
      MATERNALLY INHERITED DIABETES AND DEAFNESS IS A DISTINCT SUBTYPE OF DIABETES AND ASSOCIATES WITH A SINGLE-POINT MUTATION IN THE MITOCHONDRIAL TRNA(LEU(UUR)) GENE

      Diabetes
    72. MERANTE F; TEIN I; BENSON L; ROBINSON BH
      MATERNALLY INHERITED HYPERTROPHIC CARDIOMYOPATHY DUE TO A NOVEL T-TO-C TRANSITION AT NUCLEOTIDE-9997 IN THE MITOCHONDRIAL TRNA(GLYCINE) GENE

      American journal of human genetics
    73. SAKUTA R; GOTO Y; NONAKA I; HORAI S
      AN A-TO-G TRANSITION AT NUCLEOTIDE PAIR-11084 IN THE ND4 GENE MAY BE AN MTDNA POLYMORPHISM

      American journal of human genetics


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Documento generato il 02/06/20 alle ore 08:28:32