CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature
出版年份 2015 全文链接
标题
CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature
作者
关键词
-
出版物
Clinical Respiratory Journal
Volume 10, Issue 5, Pages 614-621
出版商
Wiley
发表日期
2015-01-26
DOI
10.1111/crj.12268
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Primary ciliary dyskinesia
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- Rapid gene identification in a Chinese osteopetrosis family by whole exome sequencing
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- The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans
- (2013) Maureen Wirschell et al. NATURE GENETICS
- Whole-Exome Capture and Sequencing Identifies HEATR2 Mutation as a Cause of Primary Ciliary Dyskinesia
- (2012) Amjad Horani et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Loss-of-Function Mutations in LRRC6 , a Gene Essential for Proper Axonemal Assembly of Inner and Outer Dynein Arms, Cause Primary Ciliary Dyskinesia
- (2012) Esther Kott et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Recessive HYDIN Mutations Cause Primary Ciliary Dyskinesia without Randomization of Left-Right Body Asymmetry
- (2012) Heike Olbrich et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia
- (2012) Michael R. Knowles et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Splice-Site Mutations in the Axonemal Outer Dynein Arm Docking Complex Gene CCDC114 Cause Primary Ciliary Dyskinesia
- (2012) Alexandros Onoufriadis et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations inCCDC39andCCDC40are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
- (2012) Dinu Antony et al. HUMAN MUTATION
- CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms
- (2012) Jennifer R Panizzi et al. NATURE GENETICS
- Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia
- (2012) Hannah M Mitchison et al. NATURE GENETICS
- Primary Ciliary Dyskinesia Caused by Homozygous Mutation in DNAL1, Encoding Dynein Light Chain 1
- (2011) Masha Mazor et al. AMERICAN JOURNAL OF HUMAN GENETICS
- The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation
- (2010) Anita Becker-Heck et al. NATURE GENETICS
- CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs
- (2010) Anne-Christine Merveille et al. NATURE GENETICS
- Primary ciliary dyskinesia: when to suspect the diagnosis and how to confirm it
- (2009) Claire Hogg Paediatric Respiratory Reviews
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