Article details

Bauce et al. European Heart Journal 2005;26:1666-75.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSP4Splicec.423-1G>Ar.spl 0/200 TFC+; SD at age 332Mutation c.423-1G>A alters the acceptor splicing site of intron 3, resulting in the skipping of exon 4. This aberrant spliced mRNA contains a premature stop codon. Mutation details
DSP7S299Rc.897C>Gp.Ser299Arg 0/0 TFC+16reported before by Rampazzo et al Mutation details
DSP23R1255Kc.3764G>Ap.Arg1255Lys 0/200 TFC+1  Mutation details
DSP23R1775Ic.5324G>Tp.Arg1775Ile 0/200 TFC+3  Mutation details