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.659_660delTA I220RfsX29 p.Ile220ArgfsX29
| 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 |
| Title : Mutations in LPAR6\/P2RY5 and LIPH are associated with woolly hair and\/or hypotrichosis - Kurban_2013_J.Eur.Acad.Dermatol.Venereol_27_545 |
| Author(s) : Kurban M , Wajid M , Shimomura Y , Christiano AM |
| Ref : J Eur Acad Dermatol Venereol , 27 :545 , 2013 |
| Abstract : Kurban_2013_J.Eur.Acad.Dermatol.Venereol_27_545 |
| ESTHER : Kurban_2013_J.Eur.Acad.Dermatol.Venereol_27_545 |
| PubMedSearch : Kurban_2013_J.Eur.Acad.Dermatol.Venereol_27_545 |
| PubMedID: 22385360 |
| 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 : Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair\/hypotrichosis phenotype - Shah_2011_J.Pak.Med.Assoc_61_1060 |
| Author(s) : Shah SH , Abid A , Shahid S , Khaliq S |
| Ref : J Pak Med Assoc , 61 :1060 , 2011 |
| Abstract : Shah_2011_J.Pak.Med.Assoc_61_1060 |
| ESTHER : Shah_2011_J.Pak.Med.Assoc_61_1060 |
| PubMedSearch : Shah_2011_J.Pak.Med.Assoc_61_1060 |
| PubMedID: 22125978 |
| Gene_locus related to this paper: human-LIPH |
| Title : Founder mutations in the lipase h gene in families with autosomal recessive woolly hair\/hypotrichosis - Shimomura_2009_J.Invest.Dermatol_129_1927 |
| Author(s) : Shimomura Y , Wajid M , Zlotogorski A , Lee YJ , Rice RH , Christiano AM |
| Ref : Journal of Investigative Dermatology , 129 :1927 , 2009 |
| Abstract : Shimomura_2009_J.Invest.Dermatol_129_1927 |
| ESTHER : Shimomura_2009_J.Invest.Dermatol_129_1927 |
| PubMedSearch : Shimomura_2009_J.Invest.Dermatol_129_1927 |
| PubMedID: 19262606 |
| Gene_locus related to this paper: human-LIPH |
| Title : The effect of inbreeding on the distribution of compound heterozygotes: a lesson from Lipase H mutations in autosomal recessive woolly hair\/hypotrichosis - Petukhova_2009_Hum.Hered_68_117 |
| Author(s) : Petukhova L , Shimomura Y , Wajid M , Gorroochurn P , Hodge SE , Christiano AM |
| Ref : Hum Hered , 68 :117 , 2009 |
| Abstract : Petukhova_2009_Hum.Hered_68_117 |
| ESTHER : Petukhova_2009_Hum.Hered_68_117 |
| PubMedSearch : Petukhova_2009_Hum.Hered_68_117 |
| PubMedID: 19365138 |
| Gene_locus related to this paper: human-LIPH |
| Title : A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2) - Jelani_2008_Clin.Genet_74_184 |
| Author(s) : Jelani M , Wasif N , Ali G , Chishti M , Ahmad W |
| Ref : Clin Genet , 74 :184 , 2008 |
| Abstract : Jelani_2008_Clin.Genet_74_184 |
| ESTHER : Jelani_2008_Clin.Genet_74_184 |
| PubMedSearch : Jelani_2008_Clin.Genet_74_184 |
| PubMedID: 18445047 |
| Gene_locus related to this paper: human-LIPH |