Determination of SMN1/SMN2 gene dosage by a quantitative genotyping platform combining capillary electrophoresis and MALDI-TOF mass spectrometry. [electronic resource]
Producer: 20060413Description: 361-9 p. digitalISSN:- 0009-9147
- Cyclic AMP Response Element-Binding Protein -- genetics
- Electrophoresis, Capillary
- Gene Dosage
- Genetic Testing
- Genotype
- Heterozygote
- Humans
- Muscular Atrophy, Spinal -- diagnosis
- Nerve Tissue Proteins -- genetics
- Polymorphism, Single Nucleotide
- RNA-Binding Proteins -- genetics
- Reproducibility of Results
- SMN Complex Proteins
- Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
- Spinal Muscular Atrophies of Childhood -- diagnosis
- 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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