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 -
Author(s) : Ito T , Shimomura Y , Hayashi R , Tokura Y
Ref : J Dermatol , 42 :752 , 2015
PubMedID: 25899282
Gene_locus related to this paper: human-LIPH

Related information

Mutation D229GfsX22_human-LIPH    C246S_human-LIPH
Gene_locus human-LIPH
Disease Hypotrichosis

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

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