Article
Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).
American journal of human genetics - 1 Mar 1995
Taschner P E, de Vos N, Thompson A D, Callen D F, Doggett N, Mole S E, Dooley T P, Barth P G, Breuning M H
Abstract excerpt
The gene that is involved in juvenile neuronal ceroid lipofuscinosis (JNCL), or Batten disease--CLN3--has been localized to 16p12, and the mutation shows a strong association with alleles of microsatellite markers D16S298, D16S299, and D16S288. Recently, haplotype analysis of a Batten patient fro...
Topics
- Alleles
- Base Sequence
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 16
- Haplotypes
- Humans
- Male
- Molecular Sequence Data
- Neuronal Ceroid-Lipofuscinoses
- Pedigree
- Polymerase Chain Reaction
- Sequence Deletion