Detection of novel mutations in the SMN Tudor domain in type I SMA patients. [electronic resource]
Producer: 20041221Description: 146-9 p. digitalISSN:- 1526-632X
- Amino Acid Sequence
- Amino Acid Substitution
- Cyclic AMP Response Element-Binding Protein
- DNA Mutational Analysis
- Exons -- genetics
- Gene Deletion
- Genotype
- Humans
- Molecular Sequence Data
- Mutation, Missense
- Nerve Tissue Proteins -- genetics
- Pedigree
- Phenotype
- Point Mutation
- Protein Structure, Tertiary -- genetics
- RNA-Binding Proteins
- SMN Complex Proteins
- Spain
- Spinal Muscular Atrophies of Childhood -- genetics
- Survival of Motor Neuron 1 Protein
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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