Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling. [electronic resource]
Producer: 19990520Description: 1340-56 p. digitalISSN:- 0002-9297
- Cyclic AMP Response Element-Binding Protein
- DNA Mutational Analysis
- Female
- Gene Dosage
- Genetic Carrier Screening
- Genetic Counseling
- Genotype
- Humans
- Male
- Molecular Sequence Data
- Muscular Atrophy, Spinal -- genetics
- Nerve Tissue Proteins -- genetics
- Phenotype
- Polymerase Chain Reaction
- RNA-Binding Proteins
- SMN Complex Proteins
- 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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