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：

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

[1] OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
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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
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Odent, S
Derrien, C
Pasquier, L
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Reynier, P
Bonneau, D
[J]. AMERICAN JOURNAL OF OPHTHALMOLOGY, 2003, 136 (06) : 1170 - 1171
[3] Baris Olivier, 2003, Hum Mutat, V21, P656, DOI 10.1002/humu.9152
[4] Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
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[5] Mutation spectrum and splicing variants in the OPA1 gene
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[J]. HUMAN GENETICS, 2001, 109 (06) : 584 - 591
[6] KJER P, 1959, ACTA OPHTHALMOL S, V54, P1
[7] Genomic variants in exons and introns: identifying the splicing spoilers
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[J]. NATURE REVIEWS GENETICS, 2004, 5 (05) : 389 - U2