Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1? subunit
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference12 articles.
1. X-Chromosome localization of the functional gene for the E1α subunit of the human pyruvate dehydrogenase complex
2. 1996. Human defects of the pyruvate dehydrogenase complex. In: editors. Alpha-keto acid dehydrogenase complexes. Basel: Birkhäuser. pp 249-269.
3. Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency
4. Mutations in the X-linked pyruvate dehydrogenase (E1) ? subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency
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