Title : A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome - |
Author(s) : Ben Selma Z , Yilmaz S , Schischmanoff PO , Blom A , Ozogul C , Laroche L , Caux F |
Ref : Journal of Investigative Dermatology , 127 :2273 , 2007 |
PubMedID: 17495960 |
Gene_locus related to this paper: human-ABHD5 |
Title : CGI-58\/ABHD5 gene is mutated in Dorfman-Chanarin syndrome - |
Author(s) : Caux F , Selma ZB , Laroche L , Prud'homme JF , Fischer J |
Ref : American Journal of Medicine Genet A , 129A :214 , 2004 |
PubMedID: 15316960 |
Gene_locus related to this paper: human-ABHD5 |