Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy
LRIF1 纯合无义变异与面肩肱型肌营养不良症相关
期刊:Neurology
影响因子:7.7
doi:10.1212/WNL.0000000000009617
Kohei Hamanaka, Darina Šikrová, Satomi Mitsuhashi, Hiroki Masuda, Yukari Sekiguchi, Atsuhiko Sugiyama, Kazumoto Shibuya, Richard J L F Lemmers, Remko Goossens, Megumu Ogawa, Koji Nagao, Chikashi Obuse, Satoru Noguchi, Yukiko K Hayashi, Satoshi Kuwabara, Judit Balog, Ichizo Nishino, Silvère M van der