Identification of a novel mutation, c.686delAins18 (p.Asp229Glyfs*22), in the LIPH gene as a compound heterozygote with c.736T>A (p.Cys246Ser) in autosomal recessive woolly hair/hypotrichosis.
作者信息
Ito Taisuke, Shimomura Yutaka, Hayashi Ryota, Tokura Yoshiki
机构信息
Department of Dermatology, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Laboratory of Genetic Skin Diseases, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
出版信息
J Dermatol. 2015 Jul;42(7):752-3. doi: 10.1111/1346-8138.12889. Epub 2015 Apr 20.
PMID:25899282
Abstract
摘要
Zotero 插件