Article details

Al-Jasser et al. Journal of Molecular Biology 2011;411:1049-61.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSP11K470Ec.1408A>Gp.Lys470Glu 0/0   Causes local conformational alterations while the overall folded structure is maintained. Mutation details
DSP17R808Cc.2422C>Tp.Arg808Cys 0/1200 TFC+ Causes local conformational alterations while the overall folded structure is maintained. Mutation details