Article details

Dalal et al. Circulation 2006;113:1641-9.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
PKP21S50fsX110c.148_151delACAGp.Thr50SerfsX61 0/0 TFC+   Mutation details
PKP22R79Xc.235C>Tp.Arg79X 0/0 TFC+   Mutation details
PKP23S140Fc.419C>Tp.Ser140Phe 0/0 TFC+   Mutation details
PKP25Splicec.1171-2A>Gr.spl 0/400 TFC+   Mutation details
PKP25F424Sc.1271T>Cp.Phe424Ser 0/400 TFC+   Mutation details
PKP25N456fsX458c.1368delAp.Lys456AsnfsX3 0/400 TFC+   Mutation details
PKP27W538Xc.1613G>Ap.Trp538X 0/400 TFC+   Mutation details
PKP27V548fsX562c.1643delGp.Gly548ValfsX15 0/0 TFC+   Mutation details
PKP210R672fsX683c.2013delCp.Lys672ArgfsX12 0/400 TFC+   Mutation details
PKP211Splicec.2146-1G>Cr.spl 0/0 TFC+   Mutation details
PKP211A733fsX740c.2197_2202delinsGp.His733AlafsX8 0/400 TFC+   Mutation details
PKP212Splicec.2489+1G>Ar.spl 0/0 TFC+   Mutation details
PKP213V837fsX930c.2509delAp.Ser837ValfsX94 0/0 TFC+   Mutation details