欧洲家族性及散发性Leber遗传性视神经病变病例中线粒体DNA突变模式的特征 - Suppr

Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.

作者信息

Obermaier-Kusser B, Lorenz B, Schubring S, Paprotta A, Zerres K, Meitinger T, Meire F, Cochaux P, Blankenagel A, Kommerell G

出版信息

Am J Hum Genet. 1994 Nov;55(5):1063-6.

PMID:7977345

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1918326/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7fc/1918326/9cd564e6b233/ajhg00044-0213-a.jpg

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Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.欧洲家族性及散发性Leber遗传性视神经病变病例中线粒体DNA突变模式的特征

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LEBER'S DISEASE IN THE NETHERLANDS.荷兰的利伯病

Doc Ophthalmol. 1963;17:1-162. doi: 10.1007/BF00573524.

The two locus control of Leber hereditary optic neuropathy and a high penetrance in Japanese pedigrees.Leber遗传性视神经病变的双位点控制及在日本家系中的高外显率

Hum Genet. 1993 May;91(4):339-41. doi: 10.1007/BF00217353.

Leber's hereditary optic neuropathy. New genetic considerations.莱伯遗传性视神经病变。新的遗传学考量。

Arch Neurol. 1993 May;50(5):540-8. doi: 10.1001/archneur.1993.00540050082021.

Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation.莱伯遗传性视神经病变。14484突变的临床表现。

Arch Ophthalmol. 1993 Apr;111(4):495-8. doi: 10.1001/archopht.1993.01090040087038.

Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene.莱伯遗传性视神经病变：线粒体细胞色素b基因突变的病因学作用

Genetics. 1993 Jan;133(1):133-6. doi: 10.1093/genetics/133.1.133.

Reevaluation of the linkage of an optic atrophy susceptibility gene to X-chromosomal markers in Finnish families with Leber hereditary optic neuroretinopathy (LHON).对芬兰患有Leber遗传性视神经视网膜病变（LHON）的家族中视神经萎缩易感基因与X染色体标记物之间连锁关系的重新评估。

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Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy.

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