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 :
p.G94-K123dup Gly94_Lys123dup c.280_369dup 30-amino acid in-frame duplication compound hetrozygote with Q137HfsX1 Pasternack 2009
| 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 |
| Title : In vitro analysis of LIPH mutations causing hypotrichosis simplex: evidence confirming the role of lipase H and lysophosphatidic acid in hair growth - Pasternack_2009_J.Invest.Dermatol_129_2772 |
| Author(s) : Pasternack SM , von Kugelgen I , Muller M , Oji V , Traupe H , Sprecher E , Nothen MM , Janecke AR , Betz RC |
| Ref : Journal of Investigative Dermatology , 129 :2772 , 2009 |
| Abstract : |
| PubMedSearch : Pasternack_2009_J.Invest.Dermatol_129_2772 |
| PubMedID: 19536142 |
| Gene_locus related to this paper: human-LIPH |
| Title : A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families - Nahum_2009_Arch.Dermatol.Res_301_391 |
| Author(s) : Nahum S , Pasternack SM , Pforr J , Indelman M , Wollnik B , Bergman R , Nothen MM , Konig A , Khamaysi Z , Betz RC , Sprecher E |
| Ref : Arch Dermatol Res , 301 :391 , 2009 |
| Abstract : |
| PubMedSearch : Nahum_2009_Arch.Dermatol.Res_301_391 |
| PubMedID: 18820939 |
| Gene_locus related to this paper: human-LIPH |
| Title : Mutations in lipase H cause autosomal recessive hypotrichosis simplex with woolly hair - Horev_2009_J.Am.Acad.Dermatol_61_813 |
| Author(s) : Horev L , Tosti A , Rosen I , Hershko K , Vincenzi C , Nanova K , Mali A , Potikha T , Zlotogorski A |
| Ref : J Am Acad Dermatol , 61 :813 , 2009 |
| Abstract : |
| PubMedSearch : Horev_2009_J.Am.Acad.Dermatol_61_813 |
| PubMedID: 19766349 |
| Gene_locus related to this paper: human-LIPH |