Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy. [electronic resource]
Producer: 19970113Description: 359-65 p. digitalISSN:- 0964-6906
- Adolescent
- Adult
- Child
- Child, Preschool
- Chromosomes, Human, Pair 5
- Cyclic AMP Response Element-Binding Protein
- Electromyography
- Exons
- Female
- Gene Deletion
- Haplotypes
- Heterozygote
- Homozygote
- Humans
- Male
- Middle Aged
- Muscular Atrophy, Spinal -- genetics
- Nerve Tissue Proteins -- genetics
- Pedigree
- Polymorphism, Single-Stranded Conformational
- RNA-Binding Proteins
- SMN Complex Proteins
- Survival of Motor Neuron 1 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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