Article details

Asimaki et al. New England Journal of Medicine 2009;360:1075-84.

Clinical reports from this article

GeneExonMutationDNA ChangeProtein ChangeControlsPatient# Affected RelativesNotesMutation details
DSG28L277_M280delc.829_840del12p.Leu277_Met280del 0/0 SCD at age 15   Mutation details
DSG212C591Xc.1773_1774delTGp.Cys591X 0/0 TFC+   Mutation details
DSP7S299Rc.897C>Gp.Ser299Arg 0/0 SCD at age 18   Mutation details
DSP7Splicec.939+1G>Ar.spl? 0/0 SCD at age 42   Mutation details
DSP23R1113Xc.3337C>Tp.Arg1113X 0/0 SCD at age 36   Mutation details
JUP2S39_K40insSc.118_119insGCAp.Ser39_Lys40insSer 0/0 TFC+   Mutation details
PKP211Splicec.2146-1G>Cr.spl 0/0 SCD at age 22   Mutation details
PKP213V837fsX930c.2509delAp.Ser837ValfsX94 0/0 SCD at age 37   Mutation details