Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome.
作者信息
Takeichi Takuya, Sugiura Kazumitsu, Tso Simon, Simpson Michael A, McGrath John A, Akiyama Masashi
机构信息
Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan; St John's Institute of Dermatology, King's College London, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan.
出版信息
J Dermatol Sci. 2016 Feb;81(2):134-6. doi: 10.1016/j.jdermsci.2015.10.015. Epub 2015 Oct 27.
Abstract
摘要
Zotero 插件