Stevanin, Giovanni

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. [electronic resource] - Nature genetics Mar 2007 - 366-72 p. digital

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

1061-4036

10.1038/ng1980 doi


Adolescent
Adult
Age of Onset
Animals
Base Sequence
COS Cells
Cerebral Cortex--metabolism
Child
Chlorocebus aethiops
Chromosomes, Human, Pair 15
Corpus Callosum--pathology
DNA Mutational Analysis
Genetic Linkage
Genotype
Humans
Lod Score
Molecular Sequence Data
Mutation
Pedigree
Proteins--genetics
Rats
Rats, Sprague-Dawley
Spastic Paraplegia, Hereditary--genetics