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

文献

J-GLOBAL ID：201302239781290057 整理番号：13A0216042

著者 (7件)： , , , , , ,
資料名：
巻： 51 号： 1 ページ： 62-65 発行年： 2008年
JST資料番号： O2147A ISSN： 0923-1811 資料種別：逐次刊行物 (A)
発行国：その他 (ZZZ) 言語：英語 (EN)

引用文献 (9件)：

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

前のページに戻る