Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82)
西班牙巴斯克大家族 (MRX82) 中发现的 UPF3B 基因外显子 1 中新型无义变异的分子和临床特征
期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2019.01074
María Isabel Tejada, Olatz Villate, Nekane Ibarluzea, Ana Belén de la Hoz, Cristina Martínez-Bouzas, Elena Beristain, Francisco Martínez, Michael J Friez, Beatriz Sobrino, Francisco Barros
