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Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene

Somatic VariantMendelian DisorderGenetic DisorderMedicineGeneticsPathologyMolecular GeneticsSpinal Muscular AtrophyDisease Gene IdentificationMolecular DiagnosticsMutation UpdateSmn1 Gene