Publication | Open Access

SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion

Rare DiseasesSingle Allele DeletionSma CarrierGenetic EpidemiologyDiagnosisRehabilitationNeurologyMedicineDeletion TestNeuromusculoskeletal Disorder