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

Author (6)： SHIMIZU S (Teikyo Univ. School of Medicine, Tokyo, JPN) ,  MORI N (Teikyo Univ. School of Medicine, Tokyo, JPN) ,  KISHI M (Teikyo Univ. School of Medicine, Tokyo, JPN) ,  SUGATA H (Teikyo Univ. School of Medicine, Tokyo, JPN) ,  TSUDA A (Teikyo Univ. School of Medicine, Tokyo, JPN) ,  KUBOTA N (Teikyo Univ. School of Medicine, Tokyo, JPN)
Material： Japanese Journal of Ophthalmology  (Jpn J Ophthalmol)
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)

Thesaurus term： human(primates) ,...
Semi thesaurus term： color blindness ,...

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JST classification (2)： Eye diseases  (GP03000U) ,  Molecular genetics in general  (EC02010J)

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

Terms in the title (6)： 視神経萎縮 ,  日本人 ,  家系 ,  OPA1 ,  遺伝子 ,  変異