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- Title
Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency.
- Authors
Ling, Mingfu; McEachern, Gillian; Seyda, Agnieszka; MacKay, Nevi; Scherer, Stephen W.; Bratinova, Sacha; Beatty, Barbara; Giovannucci‐Uzielli, Maria Luisa; Robinson, Brian H.
- Abstract
Analyzes the homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase (PDH) complex deficiency. Association between protein X gene and lipoate acetyltransferase; Role of protein X in PDH kinase binding to the core complex.
- Subjects
HUMAN chromosome abnormalities; PROTEIN deficiency; DEHYDROGENASES
- Publication
Human Molecular Genetics, 1998, Vol 7, Issue 3, p501
- ISSN
0964-6906
- Publication type
Article
- DOI
10.1093/hmg/7.3.501