Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome. [electronic resource]
Producer: 20010412Description: 109-15 p. digitalISSN:- 0340-6717
- Autoradiography
- Base Sequence
- Chromosome Mapping
- Chromosomes, Human, Pair 5
- Cyclic AMP Response Element-Binding Protein
- DNA Primers
- Genetic Carrier Screening
- Haplotypes
- Humans
- In Situ Hybridization, Fluorescence
- Muscular Atrophy, Spinal -- genetics
- Mutation
- Nerve Tissue Proteins -- genetics
- 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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