Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia-Reference-Cited by-同舟云学术

Nonsense Mutation in Coiled-Coil Domain Containing 151 Gene (CCDC151) Causes Primary Ciliary Dyskinesia

Published:2014-11-24 Issue:12 Volume:35 Page:1446-1448
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Alsaadi Muslim M.¹,Erzurumluoglu A. Mesut²,Rodriguez Santiago²,Guthrie Philip A. I.²,Gaunt Tom R.²³,Omar Hager Z.¹,Mubarak Mohammad⁴,Alharbi Khalid K.⁵,Al-Rikabi Ammar C.⁴,Day Ian N. M.²

Affiliation:

1. College of Medicine, King Saud University; Riyadh 11533 Kingdom of Saudi Arabia

2. Bristol Genetic Epidemiology Laboratories (BGEL); University of Bristol; Bristol BS8 2BN; United Kingdom

3. MRC Integrative Epidemiology Unit (IEU); School of Social and Community Medicine; University of Bristol; Bristol BS8 2BN United Kingdom

4. Histopathology Unit, Department of Pathology & Laboratory Medicine, College of Medicine and King Khalid University Hospital; King Saud University; Riyadh 11461 Kingdom of Saudi Arabia

5. Clinical Laboratory Sciences Department, College of Applied Medical Sciences; King Saud University; Riyadh 11433 Kingdom of Saudi Arabia

Funder

Medical Research Council UK (MRC)

King Saud University

National Plan for Science

Technology and Innovation (NPST)

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22698/fullpdf

Reference13 articles.

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3. Identifying a high fraction of the human genome to be under selective constraint using GERP++;Davydov;PLoS Comput Biol,2010

4. Chlamydomonas ODA10 is a conserved axonemal protein that plays a unique role in outer dynein arm assembly;Dean;Mol Biol Cell,2013

5. Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut;Essner;Development,2005

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