1303_1309dupGAAAACG_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 :

References (1)

Title : Founder mutations in the lipase h gene in families with autosomal recessive woolly hair\/hypotrichosis - Shimomura_2009_J.Invest.Dermatol_129_1927
Author(s) : Shimomura Y , Wajid M , Zlotogorski A , Lee YJ , Rice RH , Christiano AM
Ref : Journal of Investigative Dermatology , 129 :1927 , 2009
Abstract : Shimomura_2009_J.Invest.Dermatol_129_1927
ESTHER : Shimomura_2009_J.Invest.Dermatol_129_1927
PubMedSearch : Shimomura_2009_J.Invest.Dermatol_129_1927
PubMedID: 19262606
Gene_locus related to this paper: human-LIPH