Article details

Bergman et al. European Journal of Medical Genetics 2007;50:355-66.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DES1S13Fc.38C>Tp.Ser13Phe DRM15Includes two of five families described by van Tintelen et al. Mutation details