Journal article

A NOVEL MUTATION (P316L) IN A FEMALE WITH PYRUVATE-DEHYDROGENASE E1-ALPHA DEFICIENCY

F TAKAKUBO, DR THORBURN, RM BROWN, GK BROWN, HHM DAHL

Human Mutation | WILEY | Published : 1995

DOI: 10.1002/humu.1380060317

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Keywords

Infant
Mutation
Gene
Complex
Humans
Life Sciences & Biomedicine
Female
Genetics & Heredity
Pyruvate Dehydrogenase Complex Deficiency Disease
Science & Technology
Pyruvate Dehydrogenase Complex