Sporadic optic atrophy due to synonymous codon change altering mRNA splicing of OPA1

被引：8

作者：

Amati-Bonneau, P ^{[1
]}

Pasquier, L ^{[1
]}

Lainey, E ^{[1
]}

Ferré, M ^{[1
]}

Odent, S ^{[1
]}

Malthièry, Y ^{[1
]}

Bonneau, D ^{[1
]}

Reynier, P ^{[1
]}

机构：

[1] CHU Angers, Lab Biochim & Biol Mol, F-49033 Angers, France

来源：

CLINICAL GENETICS | 2005年 / 67卷 / 01期

关键词：

D O I：

10.1111/j.1399-0004.2004.00358.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：102 / 103

页数：2

共 7 条

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[2] The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene [J].

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[3]

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[4] Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy [J].

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[5] Mutation spectrum and splicing variants in the OPA1 gene [J].

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[6]

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[7] Genomic variants in exons and introns: identifying the splicing spoilers [J].

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