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Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

机译：结合外显子组和全基因组测序鉴定aRmC4中的突变是原发性纤毛运动障碍的原因，外部动力蛋白臂缺陷

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26.03.14 KB. Ok to add published version to spiral, OA paper

机译：26.03.14 KB。确定将已发布的版本添加到螺旋OA纸

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Onoufriadis A; Shoemark A; Munye MM; James CT; Schmidts M; Patel M; Rosser EM; Bacchelli C; Beales PL; Scambler PJ; Hart SL; Danke-Roelse JE; Sloper JJ; Hull S; Hogg C; Emes RD; Pals G; Moore AT; Chung EMK; Mitchison HM;
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1. Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm [J] . OnoufriadisA., ShoemarkA., MunyeM.M., Journal of Medical Genetics . 2014,第1期

机译：外显子组和全基因组组合测序可确定ARMC4突变是原发性睫状运动障碍的原因，并伴有外部动力蛋白臂缺陷
2. Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms [J] . Inga M. H?ben, Rim Hjeij, Heike Olbrich, The American Journal of Human Genetics . 2018,第5期

机译：C110RF70中的突变导致原发性睫状体瘤瘤，由于外部和内部和内部和内部和内部和内部臂的缺陷，左/右体不对称随机化
3. DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm. [J] . Loges NT, Olbrich H, Fenske L, The American Journal of Human Genetics . 2008,第5期

机译：DNAI2突变会导致原发性睫状运动障碍，并在外侧动力蛋白臂中有缺陷。
4. Determining Human Ciliary Axoneme Outer Dynein Arm Protein Complex Topology Using Chemical Crosslinking and LC/MS/MS Analysis [C] . Kevin Blackburn, Andrew S. Argo, Lawrence E. Ostrowski, American Society for Mass Spectrometry Conference on Mass Spectrometry and Allied Topics . 2013

机译：使用化学交联和LC / MS / MS分析确定人睫状胰岛胰岛外部Dynein臂蛋白复杂拓扑
5. Analysis of somatic mutations identified by whole-exome sequencing in colorectal cancer metastasis [D] . Zhao, Bixiao 2016

机译：通过全外显子测序鉴定的大肠癌转移中的体细胞突变分析
6. Short report: Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm [O] . Alexandros Onoufriadis, Amelia Shoemark, Mustafa M Munye, -1

机译：简短报告：外显子组和全基因组测序相结合鉴定出ARMC4中的突变是原发性睫状运动障碍的原因并伴有外部动力蛋白缺陷
7. Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms [O] . Inga M. Höben, Rim Hjeij, Heike Olbrich, 2018

机译：C110RF70中的突变导致原发性睫状体蛋白酶导致左/右体不对称的随机化由于外和内部和内部和内部和内部和内部和内部武器的缺陷

Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm

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