• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

Pyruvate dehydrogenase deficiency caused by a four-nucleotide insertion in the E1 alpha subunit gene.

作者信息

Naito E, Ito M, Yokota I, Matsuda J, Yara A, Kuroda Y

机构信息

Department of Pediatrics, School of Medicine, University of Tokushima, Japan.

出版信息

Hum Mol Genet. 1994 Jul;3(7):1193-4. doi: 10.1093/hmg/3.7.1193.

DOI:10.1093/hmg/3.7.1193
PMID:7981697
Abstract
摘要

相似文献

1
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.
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。
Hum Mol Genet. 1994 Jun;3(6):1021-2. doi: 10.1093/hmg/3.6.1021.
3
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。
J Inherit Metab Dis. 1992;15(6):848-56. doi: 10.1007/BF01800220.
4
Pyruvate dehydrogenase deficiency in a male caused by a point mutation (F205L) in the E1 alpha subunit.一名男性因E1α亚基中的点突变(F205L)导致丙酮酸脱氢酶缺乏症。
Hum Mutat. 1994;3(2):152-5. doi: 10.1002/humu.1380030210.
5
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.
6
Pyruvate dehydrogenase (PDH) deficiency caused by a 21-base pair insertion mutation in the E1 alpha subunit.
Hum Genet. 1992 Mar;88(6):649-52. doi: 10.1007/BF02265291.
7
A four-nucleotide insertion at the E1 alpha gene in a patient with pyruvate dehydrogenase deficiency.
J Inherit Metab Dis. 1991;14(5):793-9. doi: 10.1007/BF01799952.
8
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.
9
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.
10
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.

引用本文的文献

1
Genetic and clinical features of Chinese patients with mitochondrial ataxia identified by targeted next-generation sequencing.靶向二代测序鉴定中国线粒体脑肌病患者的遗传和临床特征。
CNS Neurosci Ther. 2019 Jan;25(1):21-29. doi: 10.1111/cns.12972. Epub 2018 May 13.
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.
3
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.
4
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.