Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia.
Dalski
Andreas
A
Mitulla
Beate
B
Bürk
Katrin
K
Schattenfroh
Christoph
C
Schwinger
Eberhard
E
Zühlke
Christine
C
D002524:Cerebellar Ataxia / Q000235:genetics*; D003545:Cysteine / Q000235:genetics*; D005260:Female; D006801:Humans; D007527:Isoenzymes / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D011493:Protein Kinase C / Q000235:genetics*
D007527:Isoenzymes; C087857:protein kinase C gamma; D011493:Protein Kinase C; D003545:Cysteine