Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.

Erlich Y, Edvardson S, Hodges E, Zenvirt S, Thekkat P, Shaag A, Dor T, Hannon GJ, Elpeleg O
Genome Res. 2011 21 (5): 658-64

PMID: 21487076 · PMCID: PMC3083082 · DOI:10.1101/gr.117143.110

MeSH Terms (18)

Adolescent Adult Amino Acid Sequence Databases, Genetic Exons Genotype Homozygote Humans Kinesin Male Models, Molecular Mutation Pedigree Phenotype Polymorphism, Single Nucleotide Sequence Analysis, DNA Spastic Paraplegia, Hereditary Young Adult

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