Arginine 302 mutations in the pyruvate dehydrogenase E1α subunit gene: Identification of further patients and in vitro demonstration of pathogenicity

Human Mutation

Volumn 12, Issue 2, 1998, Pages 114-121

  Otero, Lucy J ^a   Brown, Ruth M ^a   Brown, Garry K ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Dideoxy fingerprinting; Pyruvate dehydrogenase; Site directed mutagenesis

Indexed keywords

ARTICLE; CASE REPORT; DNA DETERMINATION; DNA FINGERPRINTING; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HIP DISLOCATION; HUMAN; MICROCEPHALY; NEWBORN; PATHOGENICITY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN ANALYSIS; RNA ANALYSIS;

EID: 0031780681     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1998)12:2<114::aid-humu6>3.0.co;2-%23     Document Type: Article

References (19)

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