Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. [electronic resource]
Producer: 20020226Description: 358-68 p. digitalISSN:- 0002-9297
- Adolescent
- Adult
- Aged
- Aged, 80 and over
- Alleles
- Base Sequence
- Child
- Child, Preschool
- Cyclic AMP Response Element-Binding Protein
- Female
- Gene Dosage
- Genetic Predisposition to Disease -- genetics
- Genetic Testing -- methods
- Haplotypes -- genetics
- Heterozygote
- Humans
- Infant
- Infant, Newborn
- Male
- Middle Aged
- Muscular Atrophy, Spinal -- classification
- Mutation -- genetics
- Nerve Tissue Proteins -- genetics
- Polymerase Chain Reaction -- methods
- Prognosis
- RNA-Binding Proteins
- Reproducibility of Results
- SMN Complex Proteins
- Sensitivity and Specificity
- Survival Analysis
- Survival of Motor Neuron 1 Protein
- Survival of Motor Neuron 2 Protein
- Time Factors
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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