Article details

Basso et al. European Heart Journal 2006;27:1847-54.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSG24G100Rc.298G>Cp.Gly100Arg 0/200 TFC+   Mutation details
DSG29D419Xc.1254_1257insATGAp.Asp419X 0/200 TFC+   Mutation details
DSG212Q558Xc.1672C>Tp.Gln558X 0/200 TFC+   Mutation details
DSG214E713Kc.2137G>Ap.Glu713Lys 0/200 TFC+   Mutation details
DSP4Splicec.542+5G>Ar.spl 0/200 TFC+ Functional analysis suggests that the aberrant transcripts would be degraded. Mutation details
DSP11K470Ec.1408A>Gp.Lys470Glu 0/200 TFC+ Compound heterozygote: DSP A556T Mutation details
DSP13A566Tc.1696G>Ap.Ala566Thr 0/200 TFC+ Compound heterozygote: DSP K470E Mutation details
DSP23K1583Rc.4748A>Gp.Lys1583Arg 0/200 TFC+   Mutation details
PKP28V587Ic.1759G>Ap.Val587Ile 0/200 TFC+   Mutation details
PKP210N670fsX683c.2009delCp.Asn670ThrfsX14 0/200 TFC+   Mutation details
PKP210Q707Xc.2119C>Tp.Gln707X 0/200 TFC+   Mutation details