90-bp280-369-duplexon2_human-LIPH

General

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

References (4)

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 : 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

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