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Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit.

作者信息

Hansen L L, Horn N, Dahl H H, Kruse T A

机构信息

Institute of Human Genetics, University of Aarhus, Denmark.

出版信息

Hum Mol Genet. 1994 Jun;3(6):1021-2. doi: 10.1093/hmg/3.6.1021.

DOI:10.1093/hmg/3.6.1021
PMID:7545958
Abstract
摘要

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Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.丙酮酸脱氢酶复合体缺乏症患者X连锁丙酮酸脱氢酶（E1）α亚基基因（PDHA1）的突变
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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。
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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。
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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。
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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。
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