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.778A>T\; p.R260X\; p.Arg260Ter
| Title : A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair - Tariq_2012_Sci.Rep_2_730 |
| Author(s) : Tariq M , Azhar A , Baig SM , Dahl N , Klar J |
| Ref : Sci Rep , 2 :730 , 2012 |
| Abstract : |
| PubMedSearch : Tariq_2012_Sci.Rep_2_730 |
| PubMedID: 23066499 |
| Gene_locus related to this paper: human-LIPH |