Mutations and polymorphisms in the pyruvate dehydrogenase E1α gene-Reference-Cited by-同舟云学术

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Mutations and polymorphisms in the pyruvate dehydrogenase E1α gene

Published:1992 Issue:2 Volume:1 Page:97-102
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Dahl H.-H. M.,Brown G. K.,Brown R. M.,Hansen L. L.,Kerr D. S.,Wexler I. D.,Patel M. S.,de Meirleir L.,Lissens W.,Chun K.,MacKay N.,Robinson B. H.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference33 articles.

1. The Clinical and Biochemical Spectrum of Human Pyruvate Dehydrogenase Complex Deficiency

2. ?Cerebral? lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis

3. Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency

4. X-Chromosome localization of the functional gene for the E1α subunit of the human pyruvate dehydrogenase complex

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