Recurring large deletion in DRC1 (CCDC164) identified as causing primary ciliary dyskinesia in two Asian patients
在两名亚洲患者中,DRC1 (CCDC164) 基因中反复出现的大片段缺失被确定为原发性纤毛运动障碍的病因。
期刊:Molecular Genetics & Genomic Medicine
影响因子:1.6
doi:10.1002/mgg3.838
Morimoto, Kozo; Hijikata, Minako; Zariwala, Maimoona A; Nykamp, Keith; Inaba, Atsushi; Guo, Tz-Chun; Yamada, Hiroyuki; Truty, Rebecca; Sasaki, Yuka; Ohta, Ken; Kudoh, Shoji; Leigh, Margaret W; Knowles, Michael R; Keicho, Naoto