Chromosome 10q-linked FSHD identifies DUX4 as principal disease gene
10q染色体连锁的FSHD已确定DUX4为主要致病基因。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2020-107041
Lemmers, Richard J L F; van der Vliet, Patrick J; Blatnik, Ana; Balog, Judit; Zidar, Janez; Henderson, Don; Goselink, Rianne; Tapscott, Stephen J; Voermans, Nicol C; Tawil, Rabi; Padberg, George W A M; van Engelen, Baziel Gm; van der Maarel, Silvère M