Premature termination mutations in exon 3 of the SMN1 gene are associated with exon skipping and a relatively mild SMA phenotype. [electronic resource]
- European journal of human genetics : EJHG Feb 2001
- 113-20 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1018-4813
10.1038/sj.ejhg.5200599 doi
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