| 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 |
| Mutation | S115G_human-ABHD5 |
| Gene_locus | human-ABHD5 |
| Family | CGI-58_ABHD5_ABHD4 |
| Disease | Chanarin-Dorfman syndrome |
Ben Selma Z, Yilmaz S, Schischmanoff PO, Blom A, Ozogul C, Laroche L, Caux F (2007)
A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome
Journal of Investigative Dermatology
127 :2273
Ben Selma Z, Yilmaz S, Schischmanoff PO, Blom A, Ozogul C, Laroche L, Caux F (2007)
Journal of Investigative Dermatology
127 :2273