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High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
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Authors

  • Amelia Shoemark Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, National Heart and Lung Institute, London, UK PubMed articlesGoogle scholar articles
  • Eduardo Moya Division of Services for Women and Children, Women’s and Newborn Unit Bradford Royal Infirmary, University of Bradford, Bradford, UK PubMed articlesGoogle scholar articles
  • Robert A Hirst Department of Infection, Centre for PCD Diagnosis and Research, Immunity and Inflammation, University of Leicester, Leicester, UK PubMed articlesGoogle scholar articles
  • Mitali P Patel Genetics and Genomic Medicine, University College London, UCL Great Ormond Street Institute of Child Health, London, UK PubMed articlesGoogle scholar articles
  • Evelyn A Robson Division of Services for Women and Children, Women’s and Newborn Unit Bradford Royal Infirmary, University of Bradford, Bradford, UK PubMed articlesGoogle scholar articles
  • Jane Hayward Genetics and Genomic Medicine, University College London, UCL Great Ormond Street Institute of Child Health, London, UKNorth East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK PubMed articlesGoogle scholar articles
  • Juliet Scully Genetics and Genomic Medicine, University College London, UCL Great Ormond Street Institute of Child Health, London, UKNeuroscience and Mental Health Research Institute, School of Medicine and School of Bioscience, Cardiff University, London, UK PubMed articlesGoogle scholar articles
  • Mahmoud R Fassad Genetics and Genomic Medicine, University College London, UCL Great Ormond Street Institute of Child Health, London, UKHuman Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt PubMed articlesGoogle scholar articles
  • William Lamb Genetics and Genomic Medicine, University College London, UCL Great Ormond Street Institute of Child Health, London, UK PubMed articlesGoogle scholar articles
  • Miriam Schmidts Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Nijmegen, The NetherlandsPediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, University of Freiburg Medical Center, Freiburg, Germany PubMed articlesGoogle scholar articles
  • Mellisa Dixon Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, National Heart and Lung Institute, London, UK PubMed articlesGoogle scholar articles
  • Ramila S Patel-King Department of Molecular Biology and Biophysics, University of Connecticut Health Center, Farmington, Connecticut, USA PubMed articlesGoogle scholar articles
  • Andrew V Rogers Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, National Heart and Lung Institute, London, UKDepartment of Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London, UK PubMed articlesGoogle scholar articles
  • Andrew Rutman Department of Infection, Centre for PCD Diagnosis and Research, Immunity and Inflammation, University of Leicester, Leicester, UK PubMed articlesGoogle scholar articles
  • Claire L Jackson Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust and Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UKNIHR Southampton Respiratory Biomedical Research Unit, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK PubMed articlesGoogle scholar articles
  • Patricia Goggin Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust and Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UKNIHR Southampton Respiratory Biomedical Research Unit, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK PubMed articlesGoogle scholar articles
  • Bruna Rubbo Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust and Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UKNIHR Southampton Respiratory Biomedical Research Unit, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK PubMed articlesGoogle scholar articles
  • Sarah Ollosson Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, National Heart and Lung Institute, London, UK PubMed articlesGoogle scholar articles
  • Siobhán Carr Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, National Heart and Lung Institute, London, UK PubMed articlesGoogle scholar articles
  • Woolf Walker Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust and Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UKNIHR Southampton Respiratory Biomedical Research Unit, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK PubMed articlesGoogle scholar articles
  • Beryl Adler Department of Paediatrics, Luton and Dunstable Hospital NHS Trust, Luton, UK PubMed articlesGoogle scholar articles
  • Michael R Loebinger Department of Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London, UK PubMed articlesGoogle scholar articles
  • Robert Wilson Department of Respiratory Medicine, Royal Brompton and Harefield NHS Trust, London, UK PubMed articlesGoogle scholar articles
  • Andrew Bush Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, National Heart and Lung Institute, London, UKDepartment of Paediatric Respiratory Medicine, National Heart and Lung Institute, Imperial College, London, UK PubMed articlesGoogle scholar articles
  • Hywel Williams Centre for Translational Omics-GOSgene, Genetics and Genomic Medicine, University College London, Institute of Child Health, London, UK PubMed articlesGoogle scholar articles
  • Christopher Boustred North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK PubMed articlesGoogle scholar articles
  • Lucy Jenkins North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK PubMed articlesGoogle scholar articles
  • Eamonn Sheridan Yorkshire Regional Genetics Service and School of Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK PubMed articlesGoogle scholar articles
  • Eddie M K Chung Population, Policy and Practice Programme, University College London, UCL Great Ormond Street Institute of Child Health, London, UK PubMed articlesGoogle scholar articles
  • Christopher M Watson Yorkshire Regional Genetics Service and School of Medicine, University of Leeds, St. James’s University Hospital, Leeds, UK PubMed articlesGoogle scholar articles
  • Thomas Cullup North East Thames Regional Genetics Service, Great Ormond Street Hospital for Children, London, UK PubMed articlesGoogle scholar articles
  • Jane S Lucas Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust and Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UKNIHR Southampton Respiratory Biomedical Research Unit, University of Southampton and University Hospital Southampton NHS Foundation Trust, Southampton, UK PubMed articlesGoogle scholar articles
  • Priti Kenia Department of Respiratory Paediatrics, Birmingham Children’s Hospital NHS Foundation Trust, Birmingham, UK PubMed articlesGoogle scholar articles
  • Christopher O’Callaghan Department of Infection, Centre for PCD Diagnosis and Research, Immunity and Inflammation, University of Leicester, Leicester, UKInfection, Immunity, Inflammation and Physiological Medicine, University College London, Institute of Child Health, London, UK PubMed articlesGoogle scholar articles
  • Stephen M King Department of Molecular Biology and Biophysics, University of Connecticut Health Center, Farmington, Connecticut, USAInstitute for Systems Genomics, University of Connecticut Health Center, Farmington, Connecticut, USA PubMed articlesGoogle scholar articles
  • Claire Hogg Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, National Heart and Lung Institute, London, UK PubMed articlesGoogle scholar articles
  • Hannah M Mitchison Genetics and Genomic Medicine, University College London, UCL Great Ormond Street Institute of Child Health, London, UK PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Hannah M Mitchison, PUW32, Experimental and Personalised Medicine Section, Genetics and Genomic Medicine Programme, UCL Great Ormond Street, Institute of Child Health, London WC1N 1EH, UK; h.mitchison{at}ucl.ac.uk
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Citation

Shoemark A, Moya E, Hirst RA, et al
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

Publication history

  • Received January 16, 2017
  • Revised June 7, 2017
  • Accepted July 3, 2017
  • First published August 8, 2017.
Online issue publication 
January 15, 2018

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