Art

J-GLOBAL ID：201302239781290057   Reference number：13A0216042

High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation

Author (7)： ISHII M ,  TSURUHARA A ,  SAITO M ,  YOKOI T ,  KASAMA T ,  FUKAI K ,  UMEKOJI A
Material： JOURNAL OF DERMATOLOGICAL SCIENCE
Volume： 51  Issue： 1  Page： 62-65  Publication year： 2008 
JST Material Number： O2147A  ISSN： 0923-1811  Document type： Article
Country of issue： Other (ZZZ)  Language： ENGLISH (EN)

Reference (9)：

• DERRY, JMJ. Mutations in a delta8-delta7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Nat Genet. 1999, 22, 286-290
• BRAVERMAN, N. Mutations in the gene encoding 3 beta-hydroxysteroid-delta8, delta7-isomerase cause X-linked dominant Conradi-Hunermann syndrome. Nat Genet. 1999, 22, 291-294
• The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff. http://www.hgme.cf.ac.uk/ac/all.php
• SAMBROOK, J. Isolation of DNA from mammalian cells, protocol I. Molecular cloning : A laboratory manual. 1989, 9, 22-23
• HAS, C. The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein : novel mutations, and somatic and gonadal mosaisism. Hum Mol Genet. 2000, 9, 1951-1955

Terms in the title (1)： CASE