Article
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.
Science (New York, N.Y.) - 3 Jun 1994
Melki J, Lefebvre S, Burglen L, Burlet P, Clermont O, Millasseau P, Reboullet S, Bénichou B, Zeviani M, Le Paslier D
Abstract excerpt
Spinal muscular atrophies (SMAs) represent the second most common fatal autosomal recessive disorder after cystic fibrosis. Childhood spinal muscular atrophies are divided into severe (type I) and mild forms (types II and III). By a combination of genetic and physical mapping, a yeast artificial chromosome contig of the 5q13 region spanning the disease locus was constructed that showed the presence of low copy...
Topics
- Alleles
- Base Sequence
- Chromosomes, Artificial, Yeast
- Chromosomes, Human, Pair 5
- Female
- Gene Deletion
- Genetic Markers
- Humans
- Male
- Molecular Sequence Data
- Muscular Atrophy, Spinal