Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome

作者:Takeichi Takuya; Sugiura Kazumitsu; Tso Simon; Simpson Michael A; McGrath John A; Akiyama Masashi*
来源:Journal of Dermatological Science, 2016, 81(2): 134-136.
DOI:10.1016/j.jdermsci.2015.10.015