S60X_human-LIPH

General

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

References (1)

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