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Wright FA Strug LJ Doshi VK Commander CW Blackman SM Sun L Berthiaume Y Cutler D Cojocaru A Collaco JM Corey M Dorfman R Goddard K Green D Kent JW Lange EM Lee S Li W Luo J Mayhew GM Naughton KM Pace RG Paré P Rommens JM Sandford A Stonebraker JR Sun W Taylor C Vanscoy LL Zou F Blangero J Zielenski J O'Neal WK Drumm ML Durie PR Knowles MR Cutting GR 《Nature genetics》2011,43(6):539-546
A combined genome-wide association and linkage study was used to identify loci causing variation in cystic fibrosis lung disease severity. We identified a significant association (P = 3.34 × 10(-8)) near EHF and APIP (chr11p13) in p.Phe508del homozygotes (n = 1,978). The association replicated in p.Phe508del homozygotes (P = 0.006) from a separate family based study (n = 557), with P = 1.49 × 10(-9) for the three-study joint meta-analysis. Linkage analysis of 486 sibling pairs from the family based study identified a significant quantitative trait locus on chromosome 20q13.2 (log(10) odds = 5.03). Our findings provide insight into the causes of variation in lung disease severity in cystic fibrosis and suggest new therapeutic targets for this life-limiting disorder. 相似文献
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In 1914, the physics discipline had reached a very similar stage of development in Australia and Japan. A generation later the paths of development had considerably diverged. A systematic comparison of the evolution of physics in the two countries during these years identifies factors—political, economic and cultural—that led to this divergence, but it also uncovers a number of underlying parallels. 相似文献
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好氧颗粒污泥是一种全新概念的污水生物处理技术。介绍了好氧颗粒污泥技术的理论基础,包括好氧污泥形成机理及理化特性研究,探讨了影响好氧颗粒污泥形成的因素以及工业应用的方向和前景。 相似文献
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