Article details

Beffagna et al. BMC Medical Genetics 2007; 8:65.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSC23E102Kc.304G>Ap.Glu102Lys 0/500 TFC+3Family members with mutation are TFC- Mutation details
DSC28I345Tc.1034T>Cp.Ile345Thr 0/500 TFC+1  Mutation details