Article details

Rasmussen et al. Human Mutation 2013;34:697-705.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSG23R46Qc.137G>Ap.Arg46Gln 0/210 TFC+, N=7 2 patients carry also DSP V30M; 1 patient carries also DSP N593S Mutation details
DSG28T335Ac.1003A>Gp.Thr335Ala 0/210 TFC+1recessive inheritance observed Mutation details
DSG215A1020fsX1027c.3059_3062delAGAGp.Glu1020AlafsX18 0/210 TFC+, N=1 Also carries PKP2 E58D rare polymorphism Reported as c.3058_3062delAGAG Mutation details
DSP1V30Mc.88G>Ap.Val30Met 0/0 TFC+ Two patient carry also DSG2 R46Q Mutation details
DSP14N593Sc.1778A>Gp.Asn593Ser 0/0 TFC+ Patient carries also DSG2 R46Q Mutation details
PKP21E58Dc.174G>Tp.Glu58Asp 0/0 TFC+ Patients carries DSG2 A1020fsX1027 Mutation details