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.682delT p.L228Wfs p.Leu228Trpfs
| Title : A novel deletion mutation in the phospholipase H (LIPH) gene in a consanguineous Pakistani family with autosomal recessive hypotrichosis (LAH2) - |
| Author(s) : Kamran-ul-Hassan Naqvi S , Raza SI , Naveed AK , John P , Ahmad W |
| Ref : Br J Dermatol , 160 :194 , 2009 |
| PubMedID: 18795930 |
| 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 |