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Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA)

Cécile Rouzier, Annabelle Chaussenot, Véronique Paquis‐Flucklinger

2020Archives de Pédiatrie36 citationsDOI

Topics & Concepts

SMN1Spinal muscular atrophySMA*AlleleGenetic counselingGeneticsMedicineGenetic testingPopulationPhenotypeCarrier testingBioinformaticsGeneBiologyPrenatal diagnosisFetusPregnancyEnvironmental healthMathematicsCombinatoricsNeurogenetic and Muscular Disorders ResearchRNA modifications and cancerCongenital Anomalies and Fetal Surgery
Molecular diagnosis and genetic counseling for spinal muscular atrophy (SMA) | Litcius