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Mitochondrial ND-I mutation in Leber hereditary optic neuropathy.

作者信息

Johns D R

出版信息

Am J Hum Genet. 1992 Apr;50(4):872-4.

PMID:1550131
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1682636/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a914/1682636/16ae4c1d6608/ajhg00075-0215-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a914/1682636/16ae4c1d6608/ajhg00075-0215-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a914/1682636/16ae4c1d6608/ajhg00075-0215-a.jpg

相似文献

1
Mitochondrial ND-I mutation in Leber hereditary optic neuropathy.莱伯遗传性视神经病变中的线粒体ND-I突变
Am J Hum Genet. 1992 Apr;50(4):872-4.
2
An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.一种与Leber遗传性视神经病变相关的线粒体DNA ND-6突变。
Biochem Biophys Res Commun. 1992 Sep 30;187(3):1551-7. doi: 10.1016/0006-291x(92)90479-5.
3
Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.
Biochem Biophys Res Commun. 1991 Feb 14;174(3):1324-30. doi: 10.1016/0006-291x(91)91567-v.
4
Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy.一个患有Leber遗传性视神经病变的意大利家族中的线粒体DNA突变。
Hum Genet. 1991 Oct;87(6):725-7. doi: 10.1007/BF00201733.
5
Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy.一例散发性Leber遗传性视神经病变的分子遗传学分析
Am J Hum Genet. 1992 Feb;50(2):443-6.
6
Single-cell analysis of intercellular heteroplasmy of mtDNA in Leber hereditary optic neuropathy.Leber遗传性视神经病变中线粒体DNA细胞间异质性的单细胞分析
Am J Hum Genet. 1994 Jul;55(1):206-9.
7
Rapid diagnosis of mitochondrial mutation at position 11778-associated Leber hereditary optic neuropathy.
Clin Chem. 1992 Jul;38(7):1390.
8
Allelic mutations of the fourth subunit of NADH dehydrogenase are not pathogenetically important in 11778-negative Leber hereditary optic neuropathy.在11778阴性的Leber遗传性视神经病变中,烟酰胺腺嘌呤二核苷酸脱氢酶第四亚基的等位基因突变在发病机制上并不重要。
Am J Hum Genet. 1991 Jun;48(6):1209-13.
9
The Leber hereditary optic neuropathy 14,484 mutation and X-linked adrenoleukodystrophy: a possible modifier of phenotypic expression?
J Inherit Metab Dis. 1999 Aug;22(6):760-1. doi: 10.1023/a:1005520922737.
10
When does bilateral optic atrophy become Leber hereditary optic neuropathy?双侧视神经萎缩何时会转变为Leber遗传性视神经病变?
Am J Hum Genet. 1993 Oct;53(4):959-63.

引用本文的文献

1
Compensatory elevation of complex II activity in Leber's hereditary optic neuropathy.莱伯遗传性视神经病变中复合物II活性的代偿性升高。
Br J Ophthalmol. 1996 Jan;80(1):78-81. doi: 10.1136/bjo.80.1.78.
2
The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.患有Leber遗传性视神经视网膜病变的家族中线粒体DNA突变谱。
Hum Genet. 1993 Oct;92(4):379-84. doi: 10.1007/BF01247339.

本文引用的文献

1
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.与莱伯遗传性视神经病变相关的线粒体DNA突变。
Science. 1988 Dec 9;242(4884):1427-30. doi: 10.1126/science.3201231.
2
The mitochondrial URF1 gene in Neurospora crassa has an intron that contains a novel type of URF.粗糙脉孢菌中的线粒体URF1基因有一个内含子,该内含子包含一种新型的URF。
J Mol Biol. 1985 Nov 20;186(2):231-42. doi: 10.1016/0022-2836(85)90100-7.
3
Directly repeated sequences associated with pathogenic mitochondrial DNA deletions.
Proc Natl Acad Sci U S A. 1989 Oct;86(20):8059-62. doi: 10.1073/pnas.86.20.8059.
4
Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy.芬兰Leber遗传性视神经视网膜病变家族中线粒体ND4基因DNA序列分析。
Genomics. 1990 Nov;8(3):583-5. doi: 10.1016/0888-7543(90)90049-z.
5
The molecular genetics of Leber's hereditary optic neuropathy.莱伯遗传性视神经病变的分子遗传学
Arch Ophthalmol. 1990 Oct;108(10):1405-7. doi: 10.1001/archopht.1990.01070120053027.
6
An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.一例不涉及线粒体ND4基因突变的Leber遗传性视神经病变。
Am J Hum Genet. 1990 Oct;47(4):629-34.
7
Allelic mutations of the fourth subunit of NADH dehydrogenase are not pathogenetically important in 11778-negative Leber hereditary optic neuropathy.在11778阴性的Leber遗传性视神经病变中,烟酰胺腺嘌呤二核苷酸脱氢酶第四亚基的等位基因突变在发病机制上并不重要。
Am J Hum Genet. 1991 Jun;48(6):1209-13.
8
Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.Leber遗传性视神经病变:线粒体ND1基因受累及基因内抑制突变的证据。
Am J Hum Genet. 1991 May;48(5):935-42.
9
Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.
Biochem Biophys Res Commun. 1991 Feb 14;174(3):1324-30. doi: 10.1016/0006-291x(91)91567-v.
10
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.一种与Leber遗传性视神经视网膜病变相关的线粒体DNA新突变。
Am J Hum Genet. 1991 Jun;48(6):1147-53.