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J-GLOBAL ID：200902239217407200   Reference number：08A0770596

Six novel mutations of the ADAR1 gene in patients with dyschromatosis symmetrica hereditaria: Histological observation and comparison of genotypes and clinical phenotypes

遺伝性対側性色素異常症患者におけるADAR1遺伝子の6種類の新しい変異:遺伝子型および臨床的表現型の比較

Author (8)： KONDO Taisuke (Nagoya Univ. Graduate School of Medicine, Nagoya) ,  SUZUKI Tamio (Yamagata Univ. School of Medicine, Yamagata) ,  MITSUHASHI Yoshihiko (Yamagata Univ. School of Medicine, Yamagata) ,  ITO Shiro (Nagoya Univ. Graduate School of Medicine, Nagoya) ,  KONO Michihiro (Nagoya Univ. Graduate School of Medicine, Nagoya) ,  KOMINE Mayumi (Tokyo Univ. School of Medicine, Tokyo) ,  AKITA Hirotaka (Fujita Health Univ. School of Medicine, Aichi, JPN) ,  TOMITA Yasushi (Nagoya Univ. Graduate School of Medicine, Nagoya)
Material： Journal of Dermatology  (J Dermatol)
Volume： 35  Issue： 7  Page： 395-406  Publication year： Jul. 2008 
JST Material Number： W1578A  ISSN： 0385-2407  Document type： Article
Article type： 原著論文  Country of issue： Australia (AUS)  Language： ENGLISH (EN)

Thesaurus term： *hereditary disease ,...
Semi thesaurus term： genetic variation ,...

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JST classification (2)： Skin diseases  (GF03000Q) ,  Congenital diseases,deformities in general.  (GD03010V)

Reference (46)：

• TOMITA, Y. Genetics of pigmentary disorders. Am J Med Genet C Semin Med Genet. 2004, 131C, 75-81
• OYAMA, M. Dyschromatosis symmetrica hereditaria (reticulate acropigmentation of Dohi) : report of a Japanese family with the condition and a literature review of 185 cases. Br J Dermatol. 1999, 140, 491-496
• TOYAMA, I. An unknown disorder of hyperpigmentation. Jpn J Dermatol Urol. 1910, 10, 644
• TOYAMA, I. Dyschromatosis symmetrica hereditaria. Jpn J Dermatol Urol. 1929, 27, 95-96
• MIYAMURA, Y. Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. Am J Hum Genet. 2003, 73, 693-699

Terms in the title (8)： 遺伝性対側性色素異常症 ,  患者 ,  ADAR1 ,  遺伝子 ,  変異 ,  遺伝子型 ,  臨床 ,  表現型