M1T_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.2T>C\; p.M1T p.Met1Thr

References (1)

Title : Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2) - Naz_2009_J.Dermatol.Sci_54_12
Author(s) : Naz G , Khan B , Ali G , Azeem Z , Wali A , Ansar M , Ahmad W
Ref : J Dermatol Sci , 54 :12 , 2009
Abstract :
PubMedSearch : Naz_2009_J.Dermatol.Sci_54_12
PubMedID: 19167195
Gene_locus related to this paper: human-LIPH