Article
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.
The Journal of dermatology - 1 Jul 2015
Ito Taisuke, Shimomura Yutaka, Hayashi Ryota, Tokura Yoshiki
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