Art

J-GLOBAL ID：201302226259332012   Reference number：13A0216057

Novel mutation in a fumalate hydratase gene of a Japanese patient with multiple cutaneous and uterine leiomyomatosis

Author (8)： SHIMIZU T ,  SHIMIZU H ,  SAWAMURA D ,  WATANABE H ,  MATSUI K ,  FURUICHI M ,  NAGASAKI A ,  MAKINO T
Material： JOURNAL OF DERMATOLOGICAL SCIENCE
Volume： 48  Issue： 2  Page： 151-153  Publication year： 2007 
JST Material Number： O2147A  ISSN： 0923-1811  Document type： Article
Country of issue： Other (ZZZ)  Language： ENGLISH (EN)

Reference (9)：

• GARCIA MURET, MP. Familial leiomyomatosis cutis et uteri (Reed's syndrome). Arch Dermatol Res. 1988, 280, S29-S32
• ALAM, NA. Localization of a gene (MCUL1) for multiple cutaneous leiomyomata and uterine fibroids to chromosome 1q42.3-q43. Am J Hum Genet. 2001, 68, 1264-1269
• TOMLINSON, IP. Germline mutation in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet. 2002, 30, 406-410
• BADELOE, S. Diffuse and segmental variants of cutaneous leiomyomatosis : novel mutations in the fumarate hydratase gene and review of the literature. Exp Dermatol. 2006, 15, 735-741
• YOKOTA, k. Analysis of ATP2C1 gene mutation in 10 unrelated Japanese families with Hailey-Hailey disease. J Invest Dermatol. 2002, 118, 550-551