Article details

Antoniades et al. European Heart Journal 2006;27:2208-16.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
JUP12G680fsX690c.2040_2041delGTp.Trp680GlyfsX11 0/200 TFC+; Naxos-disease: woolly hair and palmoplantar keratoderma25autosomal recessive; a total of 26 mutation homozygotes were found in 12 families. Mutation details
PKP23G324fsX348c.971_980del10p.Ala324GlyfsX25 0/200 TFC+4  Mutation details
PKP213V837fsX930c.2509delAp.Ser837ValfsX94 0/200 TFC+5  Mutation details
PKP213R857fsX858c.2569_3018del50p.Tyr857ArgfsX2 0/200 TFC+10  Mutation details