Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy. [electronic resource]
- Genetic testing and molecular biomarkers Sep 2011
- 587-94 p. digital
Publication Type: Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't
1945-0257
10.1089/gtmb.2010.0253 doi
Gene Dosage Genetic Markers--genetics Humans Infant Ligase Chain Reaction--methods Microsatellite Repeats--genetics Models, Biological Multiplex Polymerase Chain Reaction--methods Muscular Atrophy, Spinal--diagnosis Pedigree Real-Time Polymerase Chain Reaction--methods Reproducibility of Results Sensitivity and Specificity Survival of Motor Neuron 2 Protein--genetics