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Paper Report for: Ito_2015_J.Dermatol_42_752

Reference

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

        



Related information

Gene_Locus| human-LIPH
Mutation | D229GfsX22_human-LIPH, C246S_human-LIPH,



Citations formats

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 Dermatol 42: 752-3

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



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