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Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defects.

Autor: Onoufriadis A; Molecular Medicine Unit and Birth Defects Research Centre, Institute of Child Health, University College London, London WC1N 1EH, UK Present address: Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King's College London School of Medicine, Guy's Hospital, London SE1 9RT, UK., Shoemark A; Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, Sydney Street, London SW3 6NP, UK., Schmidts M; Molecular Medicine Unit and Birth Defects Research Centre, Institute of Child Health, University College London, London WC1N 1EH, UK., Patel M; Molecular Medicine Unit and Birth Defects Research Centre, Institute of Child Health, University College London, London WC1N 1EH, UK., Jimenez G; Laboratoire Cardiogénétique, Equipe d'Accueil 4173, Université Lyon 1, Hôpital Nord-Ouest, Villefranche sur Saône, Lyon, France Laboratoire Cardiogénétique, Hospices Civils de Lyon, Groupe Hospitalier Est, 69677 Bron, France., Liu H; Laboratoire Cardiogénétique, Equipe d'Accueil 4173, Université Lyon 1, Hôpital Nord-Ouest, Villefranche sur Saône, Lyon, France Laboratoire Cardiogénétique, Hospices Civils de Lyon, Groupe Hospitalier Est, 69677 Bron, France., Thomas B; Department of Infection, Immunity and Inflammation, Division of Child Health, CSB, University of Leicester, Leicester LE2 7LX, UK., Dixon M; Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, Sydney Street, London SW3 6NP, UK., Hirst RA; Department of Infection, Immunity and Inflammation, Division of Child Health, CSB, University of Leicester, Leicester LE2 7LX, UK., Rutman A; Department of Infection, Immunity and Inflammation, Division of Child Health, CSB, University of Leicester, Leicester LE2 7LX, UK., Burgoyne T; Institute of Ophthalmology, University College London, London EC1V 9EL, UK., Williams C; Department of Infection, Immunity and Inflammation, Division of Child Health, CSB, University of Leicester, Leicester LE2 7LX, UK., Scully J; Molecular Medicine Unit and Birth Defects Research Centre, Institute of Child Health, University College London, London WC1N 1EH, UK., Bolard F; Service de Pneumologie, Centre Hospitalier Régional de Roubaix, Hôpital Victor Provo, Roubaix, France., Lafitte JJ; Département de Pneumologie, Centre Hospitalier Régional Universitaire de Lille, Hôpital Albert Calmette, Université Lille 2, Lille, France., Beales PL; Molecular Medicine Unit and Birth Defects Research Centre, Institute of Child Health, University College London, London WC1N 1EH, UK., Hogg C; Department of Paediatric Respiratory Medicine, Royal Brompton and Harefield NHS Trust, Sydney Street, London SW3 6NP, UK., Yang P; Department of Biology, Marquette University, Milwaukee, WI 53233, USA., Chung EM; General and Adolescent Paediatric Unit, Institute of Child Health, University College London, London, UK., Emes RD; School of Veterinary Medicine and Science, University of Nottingham, Leicestershire LE12 5RD, UK Advanced Data Analysis Centre, University of Nottingham, Sutton Bonington Campus, Leicestershire LE12 5RD, UK., O'Callaghan C; Department of Infection, Immunity and Inflammation, Division of Child Health, CSB, University of Leicester, Leicester LE2 7LX, UK Department of Respiratory Medicine, Portex Unit, Institute of Child Health, University College London and Great Ormond Street Hospital, 30 Guilford Street, London WC1N 1EH, UK., Bouvagnet P; Laboratoire Cardiogénétique, Equipe d'Accueil 4173, Université Lyon 1, Hôpital Nord-Ouest, Villefranche sur Saône, Lyon, France Laboratoire Cardiogénétique, Hospices Civils de Lyon, Groupe Hospitalier Est, 69677 Bron, France Service de Cardiologie Pédiatrique, Hospices Civils de Lyon, Groupe Hospitalier Est, 69677 Bron, France., Mitchison HM; Molecular Medicine Unit and Birth Defects Research Centre, Institute of Child Health, University College London, London WC1N 1EH, UK h.mitchison@ucl.ac.uk.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2014 Jul 01; Vol. 23 (13), pp. 3362-74. Date of Electronic Publication: 2014 Feb 11.