Article
A single PCR marker in strong allelic association with the infantile form of neuronal ceroid lipofuscinosis facilitates reliable prenatal diagnostics and disease carrier identification.
European journal of human genetics : EJHG - 1 Jan 1993
Vesa J, Hellsten E, Mäkelä T P, Järvelä I, Airaksinen T, Santavuori P, Peltonen L
Abstract excerpt
The infantile form of neuronal ceroid lipofuscinosis (INCL) is a progressive encephalopathy in children < 2 years old. The disease is one of the Finnish diseases, enriched in this genetically isolated population. The gene responsible for INCL has been recently assigned to the short arm of human c...
Topics
- Alleles
- Base Sequence
- Carrier State
- Female
- Finland
- Genetic Markers
- Humans
- Linkage Disequilibrium
- Male
- Molecular Sequence Data
- Neuronal Ceroid-Lipofuscinoses