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J-GLOBAL ID：200902196711886811   Reference number：99A0643453

Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11,778.

視神経疾患を持つ日本人患者における11778番目のヌクレオチドの変異とは関連しないミトコンドリアDNAの変異

Author (9)： MATSUMOTO M (Toyama Medical and Pharmaceutical Univ., Toyama, JPN) ,  HAYASAKA S (Toyama Medical and Pharmaceutical Univ., Toyama, JPN) ,  HOTTA Y (Juntendo Univ. School of Medicine, Tokyo, JPN) ,  FUJIKI K (Juntendo Univ. School of Medicine, Tokyo, JPN) ,  TAKEDA M (Juntendo Univ. School of Medicine, Tokyo, JPN) ,  KANAI A (Juntendo Univ. School of Medicine, Tokyo, JPN) ,  ISHIDA N (Ishida Eye Hospital, Niigata, JPN) ,  ENDO S (Ishida Eye Hospital, Niigata, JPN) ,  FUJIMAKI T (Juntendo Univ. School of Medicine, Tokyo, JPN)
Material： Journal of Human Genetics  (J Hum Genet)
Volume： 43  Issue： 4  Page： 242-245  Publication year： 1998 
JST Material Number： Z0756A  ISSN： 1434-5161  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Thesaurus term： *optic nerve disease ,...

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JST classification (4)： Congenital diseases,deformities in general.  (GD03010V) ,  Nervous system diseases  (GN03000O) ,  Eye diseases  (GP03000U) ,  Genetic variation  (EC01030Y)

Reference (21)：

• BROWN, MD. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11,778 or 14,484 mutations on an mtDNA lineage. Am J Hum Genet. 1997, 60, 381-387
• FUJIKI, K. A mutation of mitochondrial DNA in Japanese families with Leber's hereditary optic neuropathy. Jpn J Human Genet. 1991, 36, 141-145
• FUJIMAKI, T. DNA diagnosis and clinical features of hereditary optic neuropathy of Leber. Jpn J Clin Ophthalmol (Rinsho Ganka). 1996, 50, 1179-1182
• GHOSH, SS. Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing. Am J Hum Genet. 1996, 58, 325-334
• HIIDA, Y. Molecular genetic analysis of Leber's hereditary optic neuropathy with the 3460 mutation in Japanese pedigrees. J Jpn Ophthalmol Soc. 1995, 99, 728-734

Terms in the title (6)： 視神経疾患 ,  日本人 ,  患者 ,  ヌクレオチド ,  変異 ,  ミトコンドリアDNA