Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14.
Klebe
Stephan
S
Faivre
Laurence
L
Forlani
Sylvie
S
Dussert
Christel
C
Tourbah
Ayman
A
Brice
Alexis
A
Stevanin
Giovanni
G
Durr
Alexandra
A
D000225:Adenine; D019943:Amino Acid Substitution; D003545:Cysteine; D006147:Guanine; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense; D011493:Protein Kinase C / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D014443:Tyrosine
D014443:Tyrosine; D006147:Guanine; C087857:protein kinase C gamma; D011493:Protein Kinase C; D000225:Adenine; D003545:Cysteine