Article details

Christensen et al. Clinical Genetics 2011;80:256-64.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
TMEM438Splicec.705+7G>Ar.spl? 0/1300 TFC+ Reduced immunoreactive signal for plakoglobin Mutation details
TMEM4312S358Lc.1073C>Tp.Ser358Leu 0/1300 TFC+ Reduced immunoreactive signal for plakoglobin Mutation details