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