Article
Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis).
American journal of medical genetics - 5 Jun 1995
Taschner P E, de Vos N, Post J G, Meijers-Heijboer E J, Hofman I, Loonen M C, Pinckers A J, Bleeker-Wagemakers E M, Gardiner R M, Breuning M H
Abstract excerpt
Batten disease, or the juvenile form of neuronal ceroid lipofuscinosis, is an autosomal recessive neurodegenerative disorder manifesting with progressive blindness, seizures, and dementia, leading to an early death. The CLN3 locus which is involved in Batten disease had been localized to chromoso...
Topics
- Alleles
- Chromosome Mapping
- Chromosomes, Human, Pair 16
- Female
- Genetic Carrier Screening
- Genetic Markers
- Humans
- Inbreeding
- Linkage Disequilibrium
- Male
- Netherlands
- Neuronal Ceroid-Lipofuscinoses
- Pedigree
- Polymorphism, Genetic
- Probability
- Reproducibility of Results
- Risk Factors