Article details

Awad et al. American Journal of Human Genetics 2006;79:136-42.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSG23R46Qc.137G>Ap.Arg46Gln 0/220 TFC+1Reported as R45Q Mutation details
DSG23R49Hc.146G>Ap.Arg49His 0/220 TFC+ 0Reported as R48H; Compound heterozygote DSG2 W306X Mutation details
DSG28W306Xc.918G>Ap.Trp306X 0/220 TFC+2Reported as W305X; Compound heterozygote: DSG2 R49H Mutation details
DSG211C507Yc.1520G>Ap.Cys507Tyr 0/220 TFC+0Reported as C506Y Mutation details
DSG215G812Cc.2434G>Tp.Gly812Cys 0/220 Diagnosis established during postmortem autopsy2Reported as G811C Mutation details