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.328C>T\; p.Arg110X\; p.R110X
| Title : Mutations in the lipase-H gene causing autosomal recessive hypotrichosis and woolly hair - Mehmood_2015_Australas.J.Dermatol_56_e66 |
| Author(s) : Mehmood S , Jan A , Muhammad D , Ahmad F , Mir H , Younus M , Ali G , Ayub M , Ansar M , Ahmad W |
| Ref : Australas J Dermatol , 56 :e66 , 2015 |
| Abstract : Mehmood_2015_Australas.J.Dermatol_56_e66 |
| ESTHER : Mehmood_2015_Australas.J.Dermatol_56_e66 |
| PubMedSearch : Mehmood_2015_Australas.J.Dermatol_56_e66 |
| PubMedID: 24628704 |
| Gene_locus related to this paper: human-LIPH |