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.Q137HfsX1 Gln137HisfsX1 c.403_409dup\; a 7-bp frameshift duplication. compound hetrozygote with 90-bp280-369-duplexon2
| 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 : 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 : Pasternack_2009_J.Invest.Dermatol_129_2772 |
| ESTHER : Pasternack_2009_J.Invest.Dermatol_129_2772 |
| PubMedSearch : Pasternack_2009_J.Invest.Dermatol_129_2772 |
| PubMedID: 19536142 |
| Gene_locus related to this paper: human-LIPH |