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.454G>A p.Gly152Arg, p.G152R
| Title : Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair\/hypotrichosis (ARWH\/HT) - Chang_2017_Mutagenesis_32_599 |
| Author(s) : Chang XD , Gu YJ , Dai S , Chen XR , Zhang CL , Zhao HS , Song QH |
| Ref : Mutagenesis , 32 :599 , 2017 |
| Abstract : Chang_2017_Mutagenesis_32_599 |
| ESTHER : Chang_2017_Mutagenesis_32_599 |
| PubMedSearch : Chang_2017_Mutagenesis_32_599 |
| PubMedID: 29346610 |
| Gene_locus related to this paper: human-LIPH |