A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1).

Suppr

超能文献

作者信息

Takakubo F, Thorburn D R, Dahl H H

机构信息

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

出版信息

Hum Mol Genet. 1993 Nov;2(11):1961-2. doi: 10.1093/hmg/2.11.1961.

DOI:10.1093/hmg/2.11.1961

PMID:8281161

Abstract

摘要

相似文献

A novel mutation and a polymorphism in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1).

Hum Mol Genet. 1993 Nov;2(11):1961-2. doi: 10.1093/hmg/2.11.1961.

A four-nucleotide insertion hotspot in the X chromosome located pyruvate dehydrogenase E1 alpha gene (PDHA1).

Hum Mol Genet. 1993 Apr;2(4):473-4. doi: 10.1093/hmg/2.4.473.

An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein.丙酮酸脱氢酶E1α基因中的氨基酸替换，影响前体蛋白的线粒体导入。

Am J Hum Genet. 1995 Oct;57(4):772-80.

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

Hum Mutat. 1992;1(2):97-102. doi: 10.1002/humu.1380010203.

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.

Refined localization of the pyruvate dehydrogenase E1 alpha gene (PDHA1) by linkage analysis.通过连锁分析对丙酮酸脱氢酶E1α基因（PDHA1）进行精细定位。

Hum Genet. 1997 Jan;99(1):80-2. doi: 10.1007/s004390050315.

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.

The locus for pyruvate dehydrogenase E1 alpha subunit (Pdha1) lies between Plp and Amg on the mouse X chromosome.

Mamm Genome. 1993;4(4):230-3. doi: 10.1007/BF00417569.

Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.三名丙酮酸脱氢酶E1α缺乏症患者的突变特征分析。

J Inherit Metab Dis. 1991;14(2):140-51. doi: 10.1007/BF01800586.

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.

引用本文的文献

Somatic mosaicism for a novel mutation in a male with severe pyruvate dehydrogenase complex deficiency.一名患有严重丙酮酸脱氢酶复合物缺乏症的男性中存在一种新突变的体细胞镶嵌现象。

Mol Genet Metab Rep. 2014 Aug 28;1:362-367. doi: 10.1016/j.ymgmr.2014.08.001. eCollection 2014.

Molecular genetic analysis of a female patient with pyruvate dehydrogenase deficiency: detection of a new mutation and differential expression of mutant gene product in cultured cells.一名丙酮酸脱氢酶缺乏症女性患者的分子遗传学分析：新突变的检测及突变基因产物在培养细胞中的差异表达

J Inherit Metab Dis. 1995;18(5):547-57. doi: 10.1007/BF02435999.

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.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验