Article details

Alcalai et al. Journal of the American College of Cardiology 2003;42:319-27.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSP24G2375Rc.7123G>Cp.Gly2375Arg 0/180 TFC+; palmoplantar keratoderma and woolly hair;8The 8 family members died suddenly during young adulthood (ages 15 to 30 years). The affected family members died before the study was carried out. Mutation details