Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment
NKAP基因错义突变导致转录调控紊乱,其特征为马凡氏体型和认知障碍。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.09.009
Fiordaliso, Sarah K; Iwata-Otsubo, Aiko; Ritter, Alyssa L; Quesnel-Vallières, Mathieu; Fujiki, Katsunori; Nishi, Eriko; Hancarova, Miroslava; Miyake, Noriko; Morton, Jenny E V; Lee, Sangmoon; Hackmann, Karl; Bando, Masashige; Masuda, Koji; Nakato, Ryuichiro; Arakawa, Michiko; Bhoj, Elizabeth; Li, Dong; Hakonarson, Hakon; Takeda, Ryojun; Harr, Margaret; Keena, Beth; Zackai, Elaine H; Okamoto, Nobuhiko; Mizuno, Seiji; Ko, Jung Min; Valachova, Alica; Prchalova, Darina; Vlckova, Marketa; Pippucci, Tommaso; Seiler, Christoph; Choi, Murim; Matsumoto, Naomichi; Di Donato, Nataliya; Barash, Yoseph; Sedlacek, Zdenek; Shirahige, Katsuhiko; Izumi, Kosuke