Article
Spectrum of mutations in the Batten disease gene, CLN3.
American journal of human genetics - 1 Aug 1997
Munroe P B, Mitchison H M, O'Rawe A M, Anderson J W, Boustany R M, Lerner T J, Taschner P E, de Vos N, Breuning M H, Gardiner R M, Mole S E
Abstract excerpt
Batten disease (juvenile-onset neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive condition characterized by accumulation of lipopigments (lipofuscin and ceroid) in neurons and other cell types. The Batten disease gene, CLN3, was recently isolated, and four disease-causing mutations...
Topics
- Adolescent
- Adult
- Child
- Chromosomes, Human, Pair 16
- DNA Mutational Analysis
- Genes
- Humans
- Membrane Glycoproteins
- Molecular Chaperones
- Mutagenesis, Insertional
- Mutation
- Neuronal Ceroid-Lipofuscinoses