A Novel Mutation of the OPA1 Gene in a Japanese Family with Optic Atrophy Type 1.

SHIMIZU S; MORI N; KISHI M; SUGATA H; TSUDA A; KUBOTA N

Art

J-GLOBAL ID：200902135308088507 Reference number：02A0563741

A Novel Mutation of the OPA1 Gene in a Japanese Family with Optic Atrophy Type 1.

視神経萎縮I型日本人家系におけるOPA1遺伝子の新しい変異

Publisher site Copy service {{ this.onShowCLink("http://jdream3.com/copy/?sid=JGLOBAL&noSystem=1&documentNoArray=02A0563741&COPY=1") }}
Access JDreamⅢ for advanced search and analysis. {{ this.onShowJLink("http://jdream3.com/lp/jglobal/index.html?docNo=02A0563741&from=J-GLOBAL&jstjournalNo=W0991A") }}

Author (6)： , , , , ,
Material：
Volume： 46 Issue： 3 Page： 336-340 Publication year： May. 2002
JST Material Number： W0991A ISSN： 0021-5155 Document type： Article
Article type：原著論文 Country of issue： United States (USA) Language： ENGLISH (EN)

,...
,...

To see more with JDream III (charged). {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=02A0563741&from=J-GLOBAL&jstjournalNo=W0991A") }}

Eye diseases , Molecular genetics in general

Reference (32)：

ELIOTT, D. Visual prognosis in autosomal dominant optic atrophy (Kjer type). Am J Ophthalmol. 1993, 115, 360-367
VOTRUBA, M. Clinical features in affected individuals from 21 pedigrees with dominant optic atrophy. Arch Ophthalmol. 1998, 116, 351-358
JOHNSTON, RL. Dominant optic atrophy. Refining the clinical diagnostic criteria in light of genetic linkage studies. Ophthalmology. 1999, 106, 123-128
KJER, B. Dominant optic atrophy mapped to chromosome 3q region. II. Clinical and epidemiological aspects. Acta Ophthalmol Scand. 1996, 74, 3-7
KJER, P. Histopathology of eye, optic nerve and brain in a case of dominant optic atrophy. Acta Ophthalmol (Copenh). 1983, 61, 300-312

ｍore...

, , , , ,

Return to Previous Page