Browsing Artículos by Author "Verdura, Edgard"

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      A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases 

      Verdura, Edgard; Schlüter, Agatha; Fernández Eulate, Gorka; Ramos Martín, Raquel; Zulaica, Miren; Planas Serra, Laura; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas, Carlos; López de Munain Arregui, Adolfo José (Wiley, 2020-01)
      Objective To identify causative mutations in a patient affected by ataxia and spastic paraplegia. Methods Whole-exome sequencing (WES) and whole-genome sequencing (WGS) were performed using patient's DNA sample. RT-PCR and ...