Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA)
Cécile Rouzier, Annabelle Chaussenot, Véronique Paquis‐Flucklinger
Topics & Concepts
SMN1Spinal muscular atrophySMA*AlleleGenetic counselingGeneticsMedicineGenetic testingPopulationPhenotypeCarrier testingBioinformaticsGeneBiologyPrenatal diagnosisFetusPregnancyEnvironmental healthMathematicsCombinatoricsNeurogenetic and Muscular Disorders ResearchRNA modifications and cancerCongenital Anomalies and Fetal Surgery