Article details

Hodgkinson et al. Clinical Genetics 2013;83:321-31.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
TMEM4312S358Lc.1073C>Tp.Ser358Leu 0/0 TFC+ (original criteria McKenna et al. 1994) See Merner et al., 2008 (15 families from Newfounland, N=258 affected subjects) Mutation details