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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 |
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 : Nahum_2009_Arch.Dermatol.Res_301_391 |
ESTHER : Nahum_2009_Arch.Dermatol.Res_301_391 |
PubMedSearch : Nahum_2009_Arch.Dermatol.Res_301_391 |
PubMedID: 18820939 |
Gene_locus related to this paper: human-LIPH |