A. Onoufriadis, R. Hjeij, C. Watson, CE Slagle, NT Klena, G. Dougherty, M. Kurkowiak, N. Loges, CP Diggle, NF Morante, GC Gabriel, KL Lemke, Y Li, P. Pennekamp, T. Menchen, J. Marthin, D. Mans, SJ Letteboer, C. Werner, T. Burgoyne, C. Westermann, A. Rutman, I. Carr, C. O’Callaghan, E. Moya, E. Chung, E. Sheridan, K. Nielsen, R. Roepman, R. Burdine, Cw Lo, H. Omran, H. Mitchison
{"title":"运动性纤毛疾病的基因发现:原发性纤毛运动障碍的突变谱和CCDC151突变的发现","authors":"A. Onoufriadis, R. Hjeij, C. Watson, CE Slagle, NT Klena, G. Dougherty, M. Kurkowiak, N. Loges, CP Diggle, NF Morante, GC Gabriel, KL Lemke, Y Li, P. Pennekamp, T. Menchen, J. Marthin, D. Mans, SJ Letteboer, C. Werner, T. Burgoyne, C. Westermann, A. Rutman, I. Carr, C. O’Callaghan, E. Moya, E. Chung, E. Sheridan, K. Nielsen, R. Roepman, R. Burdine, Cw Lo, H. Omran, H. Mitchison","doi":"10.1186/2046-2530-4-S1-P30","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":38134,"journal":{"name":"Cilia","volume":"4 1","pages":"P30 - P30"},"PeriodicalIF":0.0000,"publicationDate":"2015-07-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1186/2046-2530-4-S1-P30","citationCount":"0","resultStr":"{\"title\":\"Gene discovery for motile cilia disorders: mutation spectrum in primary ciliary dyskinesia and discovery of mutations in CCDC151\",\"authors\":\"A. Onoufriadis, R. Hjeij, C. Watson, CE Slagle, NT Klena, G. Dougherty, M. Kurkowiak, N. Loges, CP Diggle, NF Morante, GC Gabriel, KL Lemke, Y Li, P. Pennekamp, T. Menchen, J. Marthin, D. Mans, SJ Letteboer, C. Werner, T. Burgoyne, C. Westermann, A. Rutman, I. Carr, C. O’Callaghan, E. Moya, E. Chung, E. Sheridan, K. Nielsen, R. Roepman, R. Burdine, Cw Lo, H. Omran, H. Mitchison\",\"doi\":\"10.1186/2046-2530-4-S1-P30\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"\",\"PeriodicalId\":38134,\"journal\":{\"name\":\"Cilia\",\"volume\":\"4 1\",\"pages\":\"P30 - P30\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2015-07-13\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://sci-hub-pdf.com/10.1186/2046-2530-4-S1-P30\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Cilia\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1186/2046-2530-4-S1-P30\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"Biochemistry, Genetics and Molecular Biology\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cilia","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1186/2046-2530-4-S1-P30","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"Biochemistry, Genetics and Molecular Biology","Score":null,"Total":0}