Listar por autor "Marca, Victoria"

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  • Distribution of the CAG Triplet Repeat in ATXN1, ATXN3, and CACNA1A Loci in Peruvian Population 
    Gonzales-Sáenz, Claudia; Cruz-Rodriguez, Carolina; Espinoza Huertas, Keren Antonieta; Véliz-Otani, Diego; Marca, Victoria; Ortega, Olimpio; Milla-Neyra, Karina; Alvarez-Tejada, Jorge; Mazzetti, Pilar; Cornejo-Olivas, Mario (Springer, 2020)
    Spinocerebellar ataxia subtypes 1, 3, and 6 (SCA1, MJD/SCA3, and SCA6) are among the most prevalent autosomal dominant cerebellar ataxias worldwide, but their relative frequencies in Peru are low. Frequency of large normal ...
  • MLPA followed by target-NGS to detect mutations in the dystrophin gene of Peruvian patients suspected of DMD/DMB 
    Guevara-Fujita, Maria Luisa; Huaman-Dianderas, Francia; Obispo, Daisy; Sanchez, Rodrigo; Barrenechea, Victor; Rojas-Malaga, Diana; Estrada-Cuzcano, Alejandro; Trubnykova, Milana; Cornejo-Olivas, Mario; Marca, Victoria; Gallardo, Bertha; Duenas-Roque, Milagros; Protzel, Ana; Castaneda, Carlos; Abarca, Hugo; Celis, Luis; La Serna-Infantes, Jorge; Fujita, Ricardo (Wiley, 2021)
    Background: We report the molecular analysis of the DMD gene in a group of Peruvian patients with Duchenne/Becker dystrophinopathy. This is the first study to thoroughly characterize mutations in this population.Methods: ...

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