KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations.

Klebe, Stephan

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations. [electronic resource] - European journal of human genetics : EJHG Jun 2012 - 645-9 p. digital

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

1476-5438

10.1038/ejhg.2011.261 doi


Chromosome Mapping
Chromosomes, Human, Pair 2--genetics
Family
Genes, Recessive
Genetic Heterogeneity
Homozygote
Humans
Kinesins--genetics
Mutation, Missense
Pedigree
Phenotype
Spastic Paraplegia, Hereditary--genetics