Pyruvate dehydrogenase deficiency in a male caused...[Hum Mutat. 1994] - PubMed Result

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1: Hum Mutat. 1994;3(2):152-5.Links

Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit.

Dahl HH, Brown GK.

Murdoch Institute for Research into Birth Defects, Royal Children's Hospital, Parkville, Melbourne, Victoria, Australia.

PMID: 8199595 [PubMed - indexed for MEDLINE]

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Cited by 2 PubMed Central articles

Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase: exon skipping, insertion of duplicate sequence, and missense mutations leading to the deficiency of the pyruvate dehydrogenase complex.
Chun K, MacKay N, Petrova-Benedict R, Federico A, Fois A, Cole DE, Robertson E, Robinson BH. Am J Hum Genet. 1995 Mar; 56(3):558-69.

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ReviewPyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.
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[Am J Hum Genet. 1995]

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