Article details

Vite et al. PLoS One 2013;8:e75082.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSG23R46Wc.136C>Tp.Arg46Trp 0/0 TFC+1See Fressart et al.,2010 Mutation details
DSG23R49Hc.146G>Ap.Arg49His 0/0 TFC+1See Fressart et al.,2010 Mutation details
DSG26Splicec.690+1G>Ar.spl? 0/0 TFC+ See Fressart et al.,2010 Mutation details