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Mutations and polymorphisms in the pyruvate dehydrogenase E1α gene

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

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 456 KB
Volume: 1
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380010203

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✦ Synopsis

C a d M5G f X8 (K.C., N.M., B.H.R.) Communicated by Richard G. H. Cotton We present an update on mutations and polymorphisms in the human X chromosome located pyruvate dehydrogenase Ela gene. A total of 20 different mutations are tabulated. The mutations include deletions, insertions, and point mutations. Certain sequences seem particularly prone to mutation. Most of the mutations are found in exons 10 and 11. Furthermore, four of the mutations are seen in unrelated patients. Little is known about how the mutations affect the structure or function of the pyruvate dehydrogenase complex. o 1992 Wiley-Liss, Inc.

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