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| 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 : Eisenberger_2012_Orphanet.J.Rare.Dis_7_59 |
| ESTHER : Eisenberger_2012_Orphanet.J.Rare.Dis_7_59 |
| 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 : Slim_2001_Toxicol.Appl.Pharmacol_171_184 |
| ESTHER : Slim_2001_Toxicol.Appl.Pharmacol_171_184 |
| PubMedSearch : Slim_2001_Toxicol.Appl.Pharmacol_171_184 |
| PubMedID: 11243918 |