A Deep Intronic, Pathogenic Variant in DNAH11 Causes Primary Ciliary Dyskinesia

被引:1
作者
Shapiro, Adam J. [1 ]
Stonebraker, Jaclyn R. [2 ]
Knowles, Michael R. [2 ]
Zariwala, Maimoona A. [2 ]
机构
[1] McGill Univ, Ctr Hlth, Res Inst, Montreal, PQ, Canada
[2] Univ N Carolina, Sch Med, Chapel Hill, NC 27515 USA
基金
美国国家卫生研究院;
关键词
DIAGNOSIS;
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:511 / 514
页数:5
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