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Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1 alpha gene.

作者信息

Lissens W, Desguerre I, Benelli C, Marsac C, Fouque F, Haenggeli C, Ponsot G, Seneca S, Liebaers I, De Meirleir L

机构信息

Department of Medical Genetics, University Hospital, Vrije Universiteit Brussel, Belgium.

出版信息

Hum Mol Genet. 1995 Feb;4(2):307-8. doi: 10.1093/hmg/4.2.307.

DOI:10.1093/hmg/4.2.307
PMID:7757085
Abstract
摘要

相似文献

1
Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1 alpha gene.一名女性因E1α基因第10外显子4个碱基对缺失导致丙酮酸脱氢酶缺乏症。
Hum Mol Genet. 1995 Feb;4(2):307-8. doi: 10.1093/hmg/4.2.307.
2
Pyruvate dehydrogenase deficiency caused by a 33 base pair duplication in the PDH E1 alpha subunit.丙酮酸脱氢酶缺乏症，由丙酮酸脱氢酶E1α亚基中33个碱基对的重复所致。
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Mutations in the X-linked E1 alpha subunit of pyruvate dehydrogenase leading to deficiency of the pyruvate dehydrogenase complex.丙酮酸脱氢酶的X连锁E1α亚基发生突变，导致丙酮酸脱氢酶复合体缺乏。
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Mutation of E1 alpha gene in a female patient with pyruvate dehydrogenase deficiency due to rapid degradation of E1 protein.一名女性丙酮酸脱氢酶缺乏症患者中，由于E1蛋白快速降解导致E1α基因突变。
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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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Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene.丙酮酸脱氢酶E1α基因的突变与多态性
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Mutation analysis of the pyruvate dehydrogenase E1 alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.8例丙酮酸脱氢酶复合物缺乏症患者的丙酮酸脱氢酶E1α基因的突变分析
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Pyruvate dehydrogenase complex deficiency due to a point mutation (P188L) within the thiamine pyrophosphate binding loop of the E1 alpha subunit.
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Cloning of a defective gene encoding the pyruvate dehydrogenase E1 alpha subunit from a patient with its deficiency.从一名患有丙酮酸脱氢酶E1α亚基缺乏症的患者中克隆出编码该亚基的缺陷基因。
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Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene.
Hum Mol Genet. 1994 Jul;3(7):1193-4. doi: 10.1093/hmg/3.7.1193.

引用本文的文献

1
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.
2
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.