Correlation between SMN2 copy number and clinical phenotype of spinal muscular atrophy: three SMN2 copies fail to rescue some patients from the disease severity. [electronic resource]
Producer: 20021227Description: 1211-9 p. digitalISSN:- 0340-5354
- Adolescent
- Adult
- Aged
- Child
- Child, Preschool
- Cyclic AMP Response Element-Binding Protein
- Female
- Haplotypes -- genetics
- Humans
- Infant
- Male
- Middle Aged
- Muscular Atrophy, Spinal -- genetics
- Nerve Tissue Proteins -- genetics
- Pedigree
- Phenotype
- RNA, Messenger -- genetics
- RNA-Binding Proteins
- SMN Complex Proteins
- Survival of Motor Neuron 1 Protein
- Survival of Motor Neuron 2 Protein
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Publication Type: Case Reports; Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
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