Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome
CDCA7 和 HELLS 突变导致免疫缺陷-着丝粒不稳定-面部异常综合征
期刊:Nature Communications
影响因子:14.7
doi:10.1038/ncomms8870
Peter E Thijssen, Yuya Ito, Giacomo Grillo, Jun Wang, Guillaume Velasco, Hirohisa Nitta, Motoko Unoki, Minako Yoshihara, Mikita Suyama, Yu Sun, Richard J L F Lemmers, Jessica C de Greef, Andrew Gennery, Paolo Picco, Barbara Kloeckener-Gruissem, Tayfun Güngör, Ismail Reisli, Capucine Picard, Kamila K