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Journal of Human Genetics

Volumn 47, Issue 5, 2002, Pages 229-231

Novel missense mutation (R94S) in the TAZ (G4.5) gene in a Japanese patient with Barth syndrome

(5) Sakamoto, O a Kitoh, T b Ohura, T a Ohya, N c Iinuma, K a

a TOHOKU UNIVERSITY SCHOOL OF MEDICINE (Japan)

b UNIVERSITY OF FUKUI (Japan)

c SHIGA UNIVERSITY OF MEDICAL SCIENCE (Japan)

Author keywords

3 Methylglutaconic aciduria; Barth syndrome; Cardiomyopathy; Cyclic neutropenia; TAZ (G4.5)

Indexed keywords

3 METHYLGLUTACONIC ACID;

ACIDURIA; ARTICLE; BARTH SYNDROME; CARDIOMYOPATHY; CASE REPORT; CHILD; ECHOCARDIOGRAPHY; ENZYME ACTIVITY; GENETIC ANALYSIS; HUMAN; MALE; MISSENSE MUTATION; NEUTROPENIA; PHOSPHOLIPID METABOLISM; SEQUENCE HOMOLOGY; SHORT STATURE; X CHROMOSOME LINKED DISORDER;

CARDIOMYOPATHY, DILATED; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; DNA-BINDING PROTEINS; GLUTARATES; HUMANS; INFANT; JAPAN; MALE; MUSCULAR DISEASES; MUTATION; MUTATION, MISSENSE; NEUTROPENIA; POLYMERASE CHAIN REACTION; PROTEINS; SYNDROME; TRANSCRIPTION FACTORS; X CHROMOSOME;

EID: 0036268331 PISSN: 14345161 EISSN: None Source Type: Journal
DOI: 10.1007/s100380200030 Document Type: Article

Times cited : (10)

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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.