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.179C>G\; p.S60X\; p.Ser60Ter
| Title : Novel mutation in LIPH in a Lebanese patient with autosomal recessive woolly hair\/hypotrichosis - |
| Author(s) : Sleiman MB , Abbas O , Btadini W , Najjar T , Tofaili M , Chedraoui A , Khalil S , Kibbi AG , Kurban M |
| Ref : J Dermatol , 42 :822 , 2015 |
| PubMedID: 26046953 |
| Gene_locus related to this paper: human-LIPH |