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Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

Antony, D; Becker-Heck, A; Zariwala, MA; Schmidts, M; Onoufriadis, A; Forouhan, M; Wilson, R; ... Mitchison, HM; + view all (2013) Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms. HUMAN MUTATION , 34 (3) pp. 462-472. 10.1002/humu.22261.

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Type: Article
Title: Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms
DOI: 10.1002/humu.22261
Keywords: Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, primary ciliary dyskinesia, cilia, CCDC39, CCDC40, radial spoke, dynein regulatory complex, nexin link, OF-FUNCTION MUTATIONS, ASPHYXIATING THORACIC DYSTROPHY, REGULATORY COMPLEX, CHLAMYDOMONAS FLAGELLA, ELECTRON-MICROSCOPY, SEQUENCING DATA, RADIAL SPOKES, PROTEIN, DEFECTS, DATABASE
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > Institute of Cardiovascular Science > Clinical Science
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Development Bio and Cancer Prog
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Genetics and Genomic Medicine Prog
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Infect, Imm, Infla. and Physio Med
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Pop Health Sciences > UCL GOS Institute of Child Health > ICH Pop, Policy and Practice Prog
URI: http://discovery.ucl.ac.uk/id/eprint/1369490
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