Title : Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome - |
Author(s) : Takeichi T , Sugiura K , Tso S , Simpson MA , McGrath JA , Akiyama M |
Ref : J Dermatol Sci , 81 :134 , 2016 |
PubMedID: 26547112 |
Gene_locus related to this paper: human-ABHD5 |