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J-GLOBAL ID：200902220050712860   Reference number：03A0529956

OPA1 Gene Mutations in Japanese Patients with Bilateral Optic Atrophy Unassociated with Mitochondrial DNA Mutations at nt 11778, 3460, and 14484

nt11778,3460および14484のミトコンドリアDNA変異とは関係しない両側視神経萎縮の日本人患者におけるOPA1遺伝子の変異

Author (9)： YAMADA T (Toyama Medical and Pharmaceutical Univ., Toyama, JPN) ,  HAYASAKA S (Toyama Medical and Pharmaceutical Univ., Toyama, JPN) ,  MATSUMOTO M (Toyama Medical and Pharmaceutical Univ., Toyama, JPN) ,  BUDU (Toyama Medical and Pharmaceutical Univ., Toyama, JPN) ,  ESA T (Toyama Medical and Pharmaceutical Univ., Toyama, JPN) ,  HAYASAKA Y (Toyama Medical and Pharmaceutical Univ., Toyama, JPN) ,  ENDO M (Toyama Medical and Pharmaceutical Univ., Toyama, JPN) ,  NAGAKI Y (Juntendo Univ., Tokyo, JPN) ,  FUJIKI K (Juntendo Univ., Tokyo, JPN)
Material： Japanese Journal of Ophthalmology  (Jpn J Ophthalmol)
Volume： 47  Issue： 4  Page： 409-411  Publication year： Jul. 2003 
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： *Optic Atrophy ,...
Semi thesaurus term： OPA1遺伝子 ,...

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JST classification (2)： Eye diagnosis(= ophthalmic diagnosis)  (GP02000N) ,  Neurologic diagnosis  (GN02000H)

Reference (7)：

• DELETTRE, C. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat Genet. 2000, 26, 207-210
• ALEXANDER, C. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet. 2000, 26, 211-215
• TOOMES, C. Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy. Hum Mol Genet. 2001, 10, 1369-1378
• MATSUMOTO, M. Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11778. J Hum Genet. 1998, 43, 242-245
• NAGASE, T. Prediction of the coding sequences of unidentified human genes, IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 1998, 5, 31-39

Terms in the title (7)： ミトコンドリアDNA ,  変異 ,  視神経萎縮 ,  日本人 ,  患者 ,  OPA1 ,  遺伝子