Gene Locus : human-LIPH
Mode of mutation : Natural mutant
Disease : Hypotrichosis
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment : c.558_559insT p.K187X p.Lys187Ter. Compound heterozygote with c.736T>A mild hypotrichosis
| Title : Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan - |
| Author(s) : Takeichi T , Tanahashi K , Taki T , Kono M , Sugiura K , Akiyama M |
| Ref : Br J Dermatol , 177 :290 , 2017 |
| PubMedID: 27641630 |
| Gene_locus related to this paper: human-LIPH |