Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR
Deborah L. Stabley, Jennifer Holbrook, Mena Scavina, Thomas O. Crawford, Kathryn J. Swoboda, Katherine Robbins, Matthew E.R. Butchbach
Topics & Concepts
SMN1Spinal muscular atrophySMA*BiologyDigital polymerase chain reactionExonGeneticsPopulationMolecular biologyGenePolymerase chain reactionMedicineMathematicsEnvironmental healthCombinatoricsNeurogenetic and Muscular Disorders ResearchRNA modifications and cancerCongenital Anomalies and Fetal Surgery