Article
Genomic rearrangements in childhood spinal muscular atrophy: linkage disequilibrium with a null allele.
Journal of medical genetics - 1 Feb 1995
Daniels R J, Campbell L, Rodrigues N R, Francis M J, Morrison K E, McLean M, MacKenzie A, Ignatius J, Dubowitz V, Davies K E
Abstract excerpt
Autosomal recessive childhood onset spinal muscular atrophy has been mapped to chromosome 5q13. We report the analysis of a polymorphic microsatellite which shows linkage disequilibrium with the disease. The linkage disequilibrium is observed with a null allele which is seen as the non-inheritanc...
Topics
- Alleles
- Child
- Chromosomes, Human, Pair 5
- DNA Probes
- DNA, Satellite
- Female
- Finland
- Gene Deletion
- Gene Rearrangement
- Genes, Recessive
- Humans
- Linkage Disequilibrium
- Male
- Muscular Atrophy, Spinal
- Pedigree