| Title : Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease - |
| Author(s) : Schleinitz N , Fischer J , Sanchez A , Veit V , Harle JR , Pelissier JF |
| Ref : Arch Dermatol , 141 :798 , 2005 |
| PubMedID: 15967942 |
| Gene_locus related to this paper: human-ABHD5 |
| Mutation | R234X_human-ABHD5 H82R_human-ABHD5 |
| Gene_locus | human-ABHD5 |
| Family | CGI-58_ABHD5_ABHD4 |
| Disease | Chanarin-Dorfman syndrome |
Schleinitz N, Fischer J, Sanchez A, Veit V, Harle JR, Pelissier JF (2005)
Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease
Arch Dermatol
141 :798
Schleinitz N, Fischer J, Sanchez A, Veit V, Harle JR, Pelissier JF (2005)
Arch Dermatol
141 :798