Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1 alpha subunit.

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作者信息

Hansen L L, Brown G K, Brown R M, Dahl H H

机构信息

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

出版信息

Hum Mol Genet. 1993 Jun;2(6):805-7. doi: 10.1093/hmg/2.6.805.

DOI:10.1093/hmg/2.6.805

PMID:8353499

Abstract

摘要

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Pyruvate dehydrogenase deficiency caused by a 5 base pair duplication in the E1 alpha subunit.

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引用本文的文献

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.丙酮酸脱氢酶复合物缺陷症谱：371 例患者的临床、生化和遗传学特征。

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The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.丙酮酸脱氢酶复合物缺陷症的谱：371 例患者的临床、生化和遗传特征。

Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7.

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.丙酮酸脱氢酶X连锁E1α亚基的突变：外显子跳跃、重复序列插入以及导致丙酮酸脱氢酶复合体缺乏的错义突变。

Am J Hum Genet. 1995 Mar;56(3):558-69.

Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.丙酮酸脱氢酶E1α缺乏症：男性和女性再次表现出差异。

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