Spinal muscular atrophy patient detection and carrier screening using dried blood spots on filter paper. [electronic resource]
Producer: 20120622Description: 123-9 p. digitalISSN:- 1945-0257
- Blood Specimen Collection -- instrumentation
- Child
- Child, Preschool
- Dried Blood Spot Testing
- Exons -- genetics
- Female
- Gene Dosage -- genetics
- Genetic Carrier Screening -- methods
- Genetic Testing -- methods
- Humans
- Infant
- Male
- Real-Time Polymerase Chain Reaction -- methods
- Sensitivity and Specificity
- Sequence Deletion
- Spinal Muscular Atrophies of Childhood -- diagnosis
- Survival of Motor Neuron 1 Protein -- genetics
- Survival of Motor Neuron 2 Protein -- genetics
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Publication Type: Journal Article
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