Alías, Laura

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