| Title : Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family - |
| Author(s) : Hayashi R , Akasaka T , Ito M , Shimomura Y |
| Ref : J Dermatol , 41 :937 , 2014 |
| PubMedID: 25201209 |
| Mutation | S154D_human-LIPH H248N_human-LIPH |
| Disease | Hypotrichosis |
Hayashi R, Akasaka T, Ito M, Shimomura Y (2014)
Compound heterozygous mutations in two distinct catalytic residues of the LIPH gene underlie autosomal recessive woolly hair in a Japanese family
J Dermatol
41 :937
Hayashi R, Akasaka T, Ito M, Shimomura Y (2014)
J Dermatol
41 :937