Article
Molecular analysis of the SMN and NAIP genes in Spanish spinal muscular atrophy (SMA) families and correlation between number of copies of cBCD541 and SMA phenotype.
Human molecular genetics - 1 Feb 1996
Velasco E, Valero C, Valero A, Moreno F, Hernández-Chico C
Abstract excerpt
Spinal muscular atrophy is an autosomal recessive disorder which affects about 1 in 10,000 individuals. The three clinical forms of SMA were mapped to the 5q13 region. Three candidate genes have been isolated and shown to be deleted in SMA patients: the Survival Motor Neuron gene (SMN), the Neuro...
Topics
- Base Sequence
- Cyclic AMP Response Element-Binding Protein
- DNA Primers
- Exons
- Female
- Gene Dosage
- Genetic Variation
- Humans
- Male
- Molecular Sequence Data
- Muscular Atrophy, Spinal
- Nerve Tissue Proteins
- Neuronal Apoptosis-Inhibitory Protein
- Pedigree
- Phenotype
- Polymorphism, Single-Stranded Conformational
- RNA-Binding Proteins
- SMN Complex Proteins