Gene Locus : human-LIPH, 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.322T>C p.W108R p.Trp108Arg
| 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 : Tariq_2012_Sci.Rep_2_730 |
| ESTHER : Tariq_2012_Sci.Rep_2_730 |
| PubMedSearch : Tariq_2012_Sci.Rep_2_730 |
| PubMedID: 23066499 |
| Gene_locus related to this paper: human-LIPH |
| 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 : Tariq_2012_Sci.Rep_2_730 |
| ESTHER : Tariq_2012_Sci.Rep_2_730 |
| PubMedSearch : Tariq_2012_Sci.Rep_2_730 |
| PubMedID: 23066499 |
| Gene_locus related to this paper: human-LIPH |
| Title : Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis\/woolly hair in 17 consanguineous families from Pakistan - Khan_2011_Clin.Exp.Dermatol_36_652 |
| Author(s) : Khan S , Habib R , Mir H , Umm e K , Naz G , Ayub M , Shafique S , Yamin T , Ali N , Basit S , Wasif N , Kamran-ul-Hassan Naqvi S , Ali G , Wali A , Ansar M , Ahmad W |
| Ref : Clinical & Experimental Dermatologyatol , 36 :652 , 2011 |
| Abstract : Khan_2011_Clin.Exp.Dermatol_36_652 |
| ESTHER : Khan_2011_Clin.Exp.Dermatol_36_652 |
| PubMedSearch : Khan_2011_Clin.Exp.Dermatol_36_652 |
| PubMedID: 21426374 |
| Gene_locus related to this paper: human-LIPH |
| Title : Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis\/woolly hair in 17 consanguineous families from Pakistan - Khan_2011_Clin.Exp.Dermatol_36_652 |
| Author(s) : Khan S , Habib R , Mir H , Umm e K , Naz G , Ayub M , Shafique S , Yamin T , Ali N , Basit S , Wasif N , Kamran-ul-Hassan Naqvi S , Ali G , Wali A , Ansar M , Ahmad W |
| Ref : Clinical & Experimental Dermatologyatol , 36 :652 , 2011 |
| Abstract : Khan_2011_Clin.Exp.Dermatol_36_652 |
| ESTHER : Khan_2011_Clin.Exp.Dermatol_36_652 |
| PubMedSearch : Khan_2011_Clin.Exp.Dermatol_36_652 |
| PubMedID: 21426374 |
| Gene_locus related to this paper: human-LIPH |
| Title : Mutations in the lipase H gene underlie autosomal recessive woolly hair\/hypotrichosis - Shimomura_2009_J.Invest.Dermatol_129_622 |
| Author(s) : Shimomura Y , Wajid M , Petukhova L , Shapiro L , Christiano AM |
| Ref : Journal of Investigative Dermatology , 129 :622 , 2009 |
| Abstract : Shimomura_2009_J.Invest.Dermatol_129_622 |
| ESTHER : Shimomura_2009_J.Invest.Dermatol_129_622 |
| PubMedSearch : Shimomura_2009_J.Invest.Dermatol_129_622 |
| PubMedID: 18830268 |
| Gene_locus related to this paper: human-LIPH |
| Title : Mutations in the lipase H gene underlie autosomal recessive woolly hair\/hypotrichosis - Shimomura_2009_J.Invest.Dermatol_129_622 |
| Author(s) : Shimomura Y , Wajid M , Petukhova L , Shapiro L , Christiano AM |
| Ref : Journal of Investigative Dermatology , 129 :622 , 2009 |
| Abstract : Shimomura_2009_J.Invest.Dermatol_129_622 |
| ESTHER : Shimomura_2009_J.Invest.Dermatol_129_622 |
| PubMedSearch : Shimomura_2009_J.Invest.Dermatol_129_622 |
| PubMedID: 18830268 |
| Gene_locus related to this paper: human-LIPH |
| 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 |
| 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 |