Art

J-GLOBAL ID：200902229662599327   Reference number：08A0560273

Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4

タイプ2および4の眼皮膚白皮症の遺伝子解析における最近の進展

Author (2)： SUZUKI Tamio (Dep. of Dermatology, Yamagata Univ. School of Medicine, 2-2-2 Iida-Nishi, Yamagata 990-9585, JPN) ,  TOMITA Yasushi (Dep. of Dermatology, Nagoya Univ. Graduate School of Medicine, 65 Tsurumai, Showa-ku, Nagoya 466-8550, JPN)
Material： Journal of Dermatological Science  (J Dermatol Sci)
Volume： 51  Issue： 1  Page： 1-9  Publication year： Jul. 2008 
JST Material Number： W1280A  ISSN： 0923-1811  Document type： Article
Article type： 文献レビュー  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： *hereditary disease ,...
Semi thesaurus term： *Albinism, Oculocutaneous ,...

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

Substance index (1)： Melanin

Reference (45)：

• TOMITA, Y. Human oculocutaneous albinism caused by a single base insertion in the tyrosinase gene. Biochem Biophy Res Commun. 1989, 164, 990-996
• TOMITA, Y. Genetics of pigmentary disorders. Am J Med Genet. 2004, 131C, 75-81
• SPRITZ, RA. Molecular genetics of oculocutaneous albinism. Hum Mol Genet. 1994, 3, 1469-1475
• SPRITZ, RA. Hermansky-Pudlak syndrome and pale ear : melanosome-making for the millennium. Pigment Cell Res. 2000, 13, 15-20
• OETTING, WS. Molecular basis of albinism : mutations and polymorphisms of pigmentation genes associated with albinism. Hum Mutat. 1999, 13, 99-115

Terms in the title (4)： タイプ ,  眼皮膚白皮症 ,  遺伝子解析 ,  進展