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J-GLOBAL ID：201102227115371864   Reference number：11A1793304

Oculocutaneous albinism type 3: A Japanese girl with novel mutations in TYRP1 gene

3型眼皮膚白皮症:TYRP1遺伝子の新規な変異をもつ日本人女児

Author (8)： YAMADA Makiko (Dep. of Dermatology, Yamagata Univ. School of Medicine, Yamagata, JPN) ,  SAKAI Keisuke (Dep. of Dermatology and Plastic Surgery, Fac. of Life Sciences, Kumamoto Univ., JPN) ,  HAYASHI Masahiro (Dep. of Dermatology, Yamagata Univ. School of Medicine, Yamagata, JPN) ,  HOZUMI Yutaka (Dep. of Dermatology, Yamagata Univ. School of Medicine, Yamagata, JPN) ,  ABE Yuko (Dep. of Dermatology, Yamagata Univ. School of Medicine, Yamagata, JPN) ,  KAWAGUCHI Masakazu (Dep. of Dermatology, Yamagata Univ. School of Medicine, Yamagata, JPN) ,  IHN Hironobu (Dep. of Dermatology and Plastic Surgery, Fac. of Life Sciences, Kumamoto Univ., JPN) ,  SUZUKI Tamio (Dep. of Dermatology, Yamagata Univ. School of Medicine, Yamagata, JPN)
Material： Journal of Dermatological Science  (J Dermatol Sci)
Volume： 64  Issue： 3  Page： 217-222  Publication year： Dec. 2011 
JST Material Number： W1280A  ISSN： 0923-1811  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Thesaurus term： *hereditary disease ,...
Semi thesaurus term： *3型眼皮膚白皮症 ,...

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JST classification (1)： Skin diseases  (GF03000Q)

Reference (14)：

• TOMITA, Y. Genetics of pigmentary disorders. Am J Med Genet C. 2004, 13, 75-81
• BOISSY, RE. Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism : a new subtype of albinism classified as OCA3. Am J Hum Genet. 1996, 58, 1145-1156
• MANGA, P. Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. Am J Hum Genet. 1997, 61, 1095-1101
• WEI, A. A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. J Invest Dermatol. 2010, 130, 716-724
• SUZUKI, T. Recent advances in genetic analyses of oculocutaneous albinism types 2 and 4. J Dermatol Sci. 2008, 51, 1-9

Terms in the title (4)： 眼皮膚白皮症 ,  遺伝子 ,  変異 ,  日本人