Art

J-GLOBAL ID：200902295274407230   Reference number：08A0953477

色素脱失のすべて 眼皮膚白皮症の病型と臨床症状

Author (1)： SUZUKI TAMIO (山形大 医 皮膚科学分野)
Material： Monthly Book Derma.  (MB Derma)
Issue： 143  Page： 26-32  Publication year： Sep. 15, 2008 
JST Material Number： L3871A  ISSN： 1343-0831  Document type： Article
Article type： 文献レビュー  Country of issue： Japan (JPN)  Language： JAPANESE (JA)

Thesaurus term： human(primates) ,...
Semi thesaurus term： Chediak-Higashi Syndrome ,...

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JST classification (3)： Diagnostics of congenital diseases, deformities.  (GD03020G) ,  Dermatlogic diagnosis  (GF02000J) ,  Eye diagnosis(= ophthalmic diagnosis)  (GP02000N)

Reference (16)：

• Tomita Y, Suzuki T: Genetics of pigmentary disorders. Am J Med Genet, 131C: 75-81, 2004.
• Spritz RA: Multi-organellar disorders of pigmentation: intracellular traffic jams in mammals, flies and yeast. Trends Genet, 15: 337-340, 1999.
• Tomita Y et al: Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Biochem Biophys Res Commun, 164: 990-996, 1989.
• King RA et al: Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. Mol Biol Med, 8: 19-29, 1991.
• King RA et al: Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. J Clin Invest, 87: 1046-1053, 1991.

Terms in the title (4)： 色素脱失 ,  眼皮膚白皮症 ,  病型 ,  臨床症状