KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction. [electronic resource]
Producer: 20140908Description: 137-42 p. digitalISSN:- 1468-6244
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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