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.932delC\; p.P311LfsX3\; p.Pro311Leufs*3
| Title : Frameshift Sequence Variants in the Human Lipase-H Gene Causing Hypotrichosis - Mehmood_2016_Pediatr.Dermatol_33_e40 |
| Author(s) : Mehmood S , Shah SH , Jan A , Younus M , Ahmad F , Ayub M , Ahmad W |
| Ref : Pediatr Dermatol , 33 :e40 , 2016 |
| Abstract : Mehmood_2016_Pediatr.Dermatol_33_e40 |
| ESTHER : Mehmood_2016_Pediatr.Dermatol_33_e40 |
| PubMedSearch : Mehmood_2016_Pediatr.Dermatol_33_e40 |
| PubMedID: 26645693 |
| Gene_locus related to this paper: human-LIPH |