Article
Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium.
Cell - 22 Sept 1995
Abstract excerpt
Batten disease (also known as juvenile neuronal ceroid lipofuscinosis) is a recessively inherited neurodegenerative disorder of childhood characterized by progressive loss of vision, seizures, and psychomotor disturbances. The Batten disease gene, CLN3, maps to chromosome 16p12.1. The so-called 56 chromosome haplotype defined by alleles at the D16S299 and D16S298 loci is shared by 73% of Batten disease...
Topics
- Amino Acid Sequence
- Base Sequence
- Child
- Chromosome Deletion
- Cosmids
- DNA, Complementary
- Female
- Genetic Testing
- Humans
- Molecular Sequence Data
- Mutation
- Neuronal Ceroid-Lipofuscinoses
- Sequence Analysis, DNA