Article
Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci.
Genomics - 1 May 1993
Mitchison H M, Thompson A D, Mulley J C, Kozman H M, Richards R I, Callen D F, Stallings R L, Doggett N A, Attwood J, McKay T R
Abstract excerpt
Batten disease, juvenile onset neuronal ceroid lipofuscinosis, is an autosomal recessive neurodegenerative disorder characterized by accumulation of autofluorescent lipopigment in neurons and other cell types. The disease locus (CLN3) has previously been assigned to chromosome 16p. The genetic lo...
Topics
- Alleles
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 16
- DNA, Satellite
- Genes, Recessive
- Genetic Markers
- Haplotypes
- Humans
- Lod Score
- Molecular Sequence Data
- Neuronal Ceroid-Lipofuscinoses
- Polymorphism, Genetic
- Repetitive Sequences, Nucleic Acid