Article details

Keller et al. Swiss Medical Weekly 2012;142:w13670.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSP13T564Ic.1691C>Tp.Thr564Ile 0/600 Naxos-Carvajal  Needs to be confirmed. Mutation details
DSP14L583Pc.1748T>Cp. Leu583Pro 0/600 Naxos-Carvajal Needs to be confirmed Mutation details