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.2T>C\; p.M1T p.Met1Thr
| Title : Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2) - Naz_2009_J.Dermatol.Sci_54_12 |
| Author(s) : Naz G , Khan B , Ali G , Azeem Z , Wali A , Ansar M , Ahmad W |
| Ref : J Dermatol Sci , 54 :12 , 2009 |
| Abstract : Naz_2009_J.Dermatol.Sci_54_12 |
| ESTHER : Naz_2009_J.Dermatol.Sci_54_12 |
| PubMedSearch : Naz_2009_J.Dermatol.Sci_54_12 |
| PubMedID: 19167195 |
| Gene_locus related to this paper: human-LIPH |