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
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