Stevanin, Giovanni

Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. [electronic resource] - Archives of neurology Aug 2004 - 1242-8 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

0003-9942

10.1001/archneur.61.8.1242 doi


Adult
Aged
Amino Acid Sequence
Base Sequence
Brain--pathology
Catalytic Domain--genetics
Chromosomes, Human, Pair 19--enzymology
Female
Genetic Linkage--genetics
Humans
Male
Middle Aged
Molecular Sequence Data
Mutation, Missense
Pedigree
Phenotype
Protein Kinase C--genetics
Spinocerebellar Ataxias--enzymology