Title: 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 Ito T, Shimomura Y, Hayashi R, Tokura Y Ref: J Dermatol, 42:752, 2015 : PubMed
Ito T, Shimomura Y, Hayashi R, Tokura Y (2015) 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 J Dermatol42: 752-3
Ito T, Shimomura Y, Hayashi R, Tokura Y (2015) J Dermatol42: 752-3