Article details

Anastasakis et al. European Heart Journal 2007;28:Suppl; 382.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSP7R270Xc.808C>Tp.Arg270X 0/0 TFC+; wooly hair and mild palmoplantar keratoderma1Digenic: PKP2 R735Q Mutation details
DSP23E1337delc.4010_4012delAGGp.Glu1337del 0/0 TFC+; woolly hair 10 siblings SD<35years, all had woolly hair Mutation details
DSP23L1486Xc.4457T>Ap.Leu1486X 0/0 TFC+1  Mutation details