Navegação por Assunto "Proteína 1 de sobrevivência do neurônio motor"

Resultados 1-1 de 1

    • Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy 

      Saute, Jonas Alex Morales; Becker, Michele Michelin; Pereira, Maria Luiza Saraiva; Facchin, Ana Carolina Brusius; Mendonça, Rodrigo de Holanda; Zanoteli, Edmar (2020) [Artigo de periódico]
      Objective: The aim of the study was to report the proportion of homozygous and compound heterozygous variants in the survival motor neuron 1 (SMN1) gene in a large population of patients with spinal muscular atrophy (SMA) ...