title: Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14.
authors.forename: Stephan
authors.initials: S
authors.lastname: Klebe
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: Sylvie
authors.initials: S
authors.lastname: Forlani
authors.forename: Christel
authors.initials: C
authors.lastname: Dussert
authors.forename: Ayman
authors.initials: A
authors.lastname: Tourbah
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Giovanni
authors.initials: G
authors.lastname: Stevanin
authors.forename: Alexandra
authors.initials: A
authors.lastname: Durr
mesh_terms: 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
chemical_list: D014443:Tyrosine; D006147:Guanine; C087857:protein kinase C gamma; D011493:Protein Kinase C; D000225:Adenine; D003545:Cysteine