Article details

Awad et al. Human Mutation 2006;27:1157.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
PKP212G828Gc.2484C>Tr.2483_2489del 0/420 TFC+0autosomal recessive; causing cryptic splicing; heterozygous carriers show no signs of disease Mutation details