Article details

Asimaki et al. American Journal of Human Genetics 2007;81:964-73.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
JUP2S39_K40insSc.118_119insGCAp.Ser39_Lys40insSer 0/400 TFC+; no cutaneous abnormalities.2autosomal dominant Mutation details