An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene. [electronic resource]
Producer: 19970311Description: 1727-32 p. digitalISSN:- 0964-6906
- Alleles
- Cyclic AMP Response Element-Binding Protein
- Exons -- genetics
- Female
- Frameshift Mutation -- genetics
- Gene Dosage
- Humans
- Infant
- Male
- Nerve Tissue Proteins -- genetics
- Phenotype
- Polymorphism, Single-Stranded Conformational
- RNA, Messenger -- genetics
- 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
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