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。 - Suppr

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超能文献

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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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。

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

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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。

Hum Mol Genet. 1993 Apr;2(4):449-54. doi: 10.1093/hmg/2.4.449.

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.

A mutation in the E1 alpha subunit of pyruvate dehydrogenase associated with variable expression of pyruvate dehydrogenase complex deficiency.丙酮酸脱氢酶E1α亚基的突变与丙酮酸脱氢酶复合物缺乏的可变表达相关。

Pediatr Res. 1992 Aug;32(2):169-74. doi: 10.1203/00006450-199208000-00009.

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

Hum Mutat. 2000;15(3):209-19. doi: 10.1002/(SICI)1098-1004(200003)15:3<209::AID-HUMU1>3.0.CO;2-K.

Neurodevelopmental abnormalities and lactic acidosis in a girl with a 20-bp deletion in the X-linked pyruvate dehydrogenase E1 alpha subunit gene.一名患有X连锁丙酮酸脱氢酶E1α亚基基因20bp缺失的女孩的神经发育异常和乳酸性酸中毒

Neurology. 1993 Oct;43(10):2025-30. doi: 10.1212/wnl.43.10.2025.

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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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

Hum Mutat. 1996;7(1):46-51. doi: 10.1002/(SICI)1098-1004(1996)7:1<46::AID-HUMU6>3.0.CO;2-N.

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Case Rep Orthop. 2014;2014:186973. doi: 10.1155/2014/186973. Epub 2014 Jan 29.

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.

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。

Am J Hum Genet. 1995 Mar;56(3):553-7.

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