Items where Author is "Sobrino, Beatriz"

Tejada, María Isabel and Villate, Olatz and Ibarluzea, Nekane and de la Hoz, Ana Belén and Martínez-Bouzas, Cristina and Beristain, Elena and Martínez, Francisco and Friez, Michael J. and Sobrino, Beatriz and Barros, Francisco (2019) Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82). Frontiers in Genetics, 10. ISSN 1664-8021