Gene Locus : human-LIPN
Mode of mutation : Natural mutant
Disease : Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis
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 :
| Title : Non-syndromic autosomal recessive congenital ichthyosis in the Israeli population - Israeli_2013_Clin.Exp.Dermatol_38_911 |
| Author(s) : Israeli S , Goldberg I , Fuchs-Telem D , Bergman R , Indelman M , Bitterman-Deutsch O , Harel A , Mashiach Y , Sarig O , Sprecher E |
| Ref : Clinical & Experimental Dermatologyatol , 38 :911 , 2013 |
| Abstract : Israeli_2013_Clin.Exp.Dermatol_38_911 |
| ESTHER : Israeli_2013_Clin.Exp.Dermatol_38_911 |
| PubMedSearch : Israeli_2013_Clin.Exp.Dermatol_38_911 |
| PubMedID: 23621129 |
| Title : A mutation in LIPN, encoding epidermal lipase N, causes a late-onset form of autosomal-recessive congenital ichthyosis - Israeli_2011_Am.J.Hum.Genet_88_482 |
| Author(s) : Israeli S , Khamaysi Z , Fuchs-Telem D , Nousbeck J , Bergman R , Sarig O , Sprecher E |
| Ref : American Journal of Human Genetics , 88 :482 , 2011 |
| Abstract : Israeli_2011_Am.J.Hum.Genet_88_482 |
| ESTHER : Israeli_2011_Am.J.Hum.Genet_88_482 |
| PubMedSearch : Israeli_2011_Am.J.Hum.Genet_88_482 |
| PubMedID: 21439540 |
| Gene_locus related to this paper: human-LIPN |