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

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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引用本文的文献

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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谱：371 例患者的临床、生化和遗传学特征。
Mol Genet Metab. 2012 Jul;106(3):385-94. doi: 10.1016/j.ymgme.2012.03.017.
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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.
3
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.
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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。
Am J Hum Genet. 1995 Mar;56(3):553-7.
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A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion.一种拓扑异构酶II切割位点与一种新的线粒体DNA缺失相关。
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