Slim R

Title : Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 - Eisenberger_2012_Orphanet.J.Rare.Dis_7_59

Author(s) : Eisenberger T , Slim R , Mansour A , Nauck M , Nurnberg G , Nurnberg P , Decker C , Dafinger C , Ebermann I , Bergmann C , Bolz H

Ref : Orphanet J Rare Dis , 7 :59 , 2012

Abstract :

PubMedSearch : Eisenberger_2012_Orphanet.J.Rare.Dis_7_59

PubMedID: 22938382

Gene_locus related to this paper: human-ABHD12

Title : The role of methyl-linoleic acid epoxide and diol metabolites in the amplified toxicity of linoleic acid and polychlorinated biphenyls to vascular endothelial cells - Slim_2001_Toxicol.Appl.Pharmacol_171_184

Author(s) : Slim R , Hammock BD , Toborek M , Robertson LW , Newman JW , Morisseau C , Watkins BA , Saraswathi V , Hennig B

Ref : Toxicol Appl Pharmacol , 171 :184 , 2001

Abstract :

PubMedSearch : Slim_2001_Toxicol.Appl.Pharmacol_171_184

PubMedID: 11243918

Slim R

References (2)

1. Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 - Eisenberger_2012_Orphanet.J.Rare.Dis_7_59

2. The role of methyl-linoleic acid epoxide and diol metabolites in the amplified toxicity of linoleic acid and polychlorinated biphenyls to vascular endothelial cells - Slim_2001_Toxicol.Appl.Pharmacol_171_184