I220RfsX_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.659-660delTA p.I220RfsX p.Ile220ArgfsX

References (2)

Title : Mutations in lipase H gene underlie autosomal recessive hypotrichosis in five Pakistani families -
Author(s) : Kalsoom UE , Habib R , Khan B , Ali G , Ali N , Ansar M , Ahmad W
Ref : Acta Derm Venereol , 90 :93 , 2010
PubMedID: 20107739
Gene_locus related to this paper: human-LIPH

Title : Mutations in the lipase H gene underlie autosomal recessive woolly hair\/hypotrichosis - Shimomura_2009_J.Invest.Dermatol_129_622
Author(s) : Shimomura Y , Wajid M , Petukhova L , Shapiro L , Christiano AM
Ref : Journal of Investigative Dermatology , 129 :622 , 2009
Abstract :
PubMedSearch : Shimomura_2009_J.Invest.Dermatol_129_622
PubMedID: 18830268
Gene_locus related to this paper: human-LIPH