Nurnberg G

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 : Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes -

Author(s) : Mihaylova V , Salih MA , Mukhtar MM , Abuzeid HA , El-Sadig SM , von der Hagen M , Huebner A , Nurnberg G , Abicht A , Muller JS , Lochmuller H , Guergueltcheva V

Ref : Neurology , 73 :1926 , 2009

PubMedID: 19949040

Nurnberg G

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. Refinement of the clinical phenotype in musk-related congenital myasthenic syndromes -