Article
Clinical application of the molecular diagnosis of spinal muscular atrophy: deletions of neuronal apoptosis inhibitor protein and survival motor neuron genes.
American journal of medical genetics - 17 Mar 1997
Somerville M J, Hunter A G, Aubry H L, Korneluk R G, MacKenzie A E, Surh L C
Abstract excerpt
The molecular genetic diagnosis of spinal muscular atrophy (SMA) has recently been complicated by the identification of two candidate genes, which are often deleted in affected individuals but are also occasionally deleted in apparently unaffected carriers. We present a compilation of genotypes,...
Topics
- Cyclic AMP Response Element-Binding Protein
- DNA Mutational Analysis
- Exons
- Humans
- Muscular Atrophy, Spinal
- Mutation
- Nerve Tissue Proteins
- Neuronal Apoptosis-Inhibitory Protein
- Pedigree
- Polymerase Chain Reaction
- RNA-Binding Proteins
- SMN Complex Proteins
- Sequence Deletion