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