KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.

Dor, Talya

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. [electronic resource] - Journal of medical genetics Feb 2014 - 137-42 p. digital

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

1468-6244

10.1136/jmedgenet-2013-102012 doi


Adolescent
Amino Acid Sequence
Base Sequence
Cerebellar Diseases--genetics
Child
Child, Preschool
Consanguinity
DNA Mutational Analysis
Female
Genetic Association Studies
Genetic Linkage
HEK293 Cells
Humans
Infant
Kinesins--genetics
Male
Molecular Sequence Data
Paraparesis, Spastic--genetics
Pedigree
Polymorphism, Single Nucleotide
Young Adult