Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. [electronic resource]
Producer: 20020422Description: 20-6 p. digitalISSN:- 1098-3600
- Alleles
- Cyclic AMP Response Element-Binding Protein
- Female
- Genetic Carrier Screening
- Genetic Testing
- Homozygote
- Humans
- Infant
- Infant, Newborn
- Male
- Mutation
- Nerve Tissue Proteins -- genetics
- Phenotype
- 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; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.
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