Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype. [electronic resource]
Producer: 20010628Description: 113-20 p. digitalISSN:- 1018-4813
- Adult
- Aminoglycosides
- Anti-Bacterial Agents -- pharmacology
- Blotting, Southern
- Blotting, Western
- Child, Preschool
- Cloning, Molecular
- Cyclic AMP Response Element-Binding Protein
- DNA Primers -- chemistry
- Exons
- Female
- Fibroblasts -- drug effects
- Fluorescent Antibody Technique
- Genotype
- Humans
- In Situ Hybridization, Fluorescence
- Male
- Muscular Atrophy, Spinal -- genetics
- Mutation
- Nerve Tissue Proteins -- genetics
- Protein Isoforms
- RNA-Binding Proteins
- Reverse Transcriptase Polymerase Chain Reaction
- SMN Complex Proteins
- Sequence Analysis, DNA
- Sequence Deletion
- Survival of Motor Neuron 1 Protein
- Survival of Motor Neuron 2 Protein
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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