[From gene to disease; 'survival' motor neuron protein and hereditary proximal spinal muscle atrophy]. [electronic resource]
Producer: 20020208Description: 2525-7 p. digitalISSN:- 0028-2162
- Adult
- Child
- Chromosomes, Human, Pair 5
- Cyclic AMP Response Element-Binding Protein
- DNA Mutational Analysis
- Gene Expression
- Genetic Carrier Screening
- Homozygote
- Humans
- Mutation
- Nerve Tissue Proteins -- genetics
- Netherlands
- Phenotype
- Prenatal Diagnosis
- RNA-Binding Proteins
- SMN Complex Proteins
- Spinal Muscular Atrophies of Childhood -- genetics
- Survival of Motor Neuron 1 Protein
- Survival of Motor Neuron 2 Protein
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Publication Type: Journal Article; Review
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