线粒体脑肌病中复合物I的X染色体编码基因NDUFA1：组织表达与突变检测 - Suppr

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超能文献

The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection.

作者信息

Loeffen J, Smeets R, Smeitink J, Ruitenbeek W, Janssen A, Mariman E, Sengers R, Trijbels F, van den Heuvel L

机构信息

University Hospital Nijmegen, Department of Paediatrics, The Netherlands.

出版信息

J Inherit Metab Dis. 1998 Jun;21(3):210-5. doi: 10.1023/a:1005339332062.

DOI:10.1023/a:1005339332062

PMID:9686359

Abstract

摘要

相似文献

The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection.线粒体脑肌病中复合物I的X染色体编码基因NDUFA1：组织表达与突变检测

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本文引用的文献

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Biochim Biophys Acta. 1997 Mar 20;1351(1-2):37-41. doi: 10.1016/s0167-4781(97)00020-1.

A human cDNA encoding the homologue of NADH: ubiquinone oxidoreductase subunit B13.一种编码NADH：泛醌氧化还原酶亚基B13同源物的人类cDNA。

Biochim Biophys Acta. 1997 Feb 7;1350(2):115-8. doi: 10.1016/s0167-4781(96)00208-4.

Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13.人类线粒体复合体I的PSST亚基基因定位于19号染色体p13区。

Genomics. 1996 Nov 1;37(3):375-80. doi: 10.1006/geno.1996.0572.

Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I.

Genomics. 1996 Nov 1;37(3):281-8. doi: 10.1006/geno.1996.0561.

Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle.

Neurology. 1996 Jul;47(1):243-8. doi: 10.1212/wnl.47.1.243.

The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome.烟酰胺腺嘌呤二核苷酸（NADH）-泛醌氧化还原酶的人类B22亚基定位于8号染色体上与鳃-耳-肾综合征相关的区域。

Genomics. 1996 Jul 1;35(1):6-10. doi: 10.1006/geno.1996.0316.

Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship.1型遗传性酪氨酸血症：人延胡索酰乙酰乙酸水解酶基因中的新型错义、无义及剪接共有序列突变；基因型-表型关系的变异性

Hum Genet. 1996 Jan;97(1):51-9. doi: 10.1007/BF00218833.

Possible X linked congenital mitochondrial cardiomyopathy in three families.三个家族中可能存在的X连锁先天性线粒体心肌病。

J Med Genet. 1993 Apr;30(4):269-72. doi: 10.1136/jmg.30.4.269.

Lacticacidemia.乳酸血症

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Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13.编码线粒体复合物I 51-kDa亚基（NDUFV1）的人类基因定位于11q13。

Genomics. 1993 Nov;18(2):435-9. doi: 10.1006/geno.1993.1493.

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