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

A high prevalence CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
A high prevalence CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations
primary ciliary dyskinesia
0040-6376
Shoemark, Amelia
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Moya, Eduardo
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Hirst, Robert A.
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Patel, M.P.
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Robson, Evelyn A.
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Hayward, Jane
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Scully, Juliet
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Fassad, Mahmoud R.
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Lamb, William
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Schmidts, Miriam
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Dixon, Mellisa
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Patel-King, Ramila S.
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Rogers, Andrew V.
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Rutman, Andrew
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Jackson, Claire L.
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Goggin, Patricia
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Rubbo, Bruna
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Ollosson, Sarah
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Carr, Siobhan
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Walker, Woolf
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Adler, Beryl
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Loebinger, Michael R.
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Wilson, Robert
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Bush, Andrew
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Williams, Hywel
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Boustred, Christopher
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Jenkins, Lucy
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Sheridan, Eamonn
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Chung, Eddie M.K.
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Watson, Christopher M.
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Cullup, Thomas
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Lucas, Jane S.
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Kenia, Priti
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O'Callaghan, Christopher
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King, Stephen M.
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Hogg, Claire
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Mitchison, Hannah M.
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Shoemark, Amelia
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Moya, Eduardo
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Hirst, Robert A.
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Patel, M.P.
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Robson, Evelyn A.
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Hayward, Jane
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Scully, Juliet
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Fassad, Mahmoud R.
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Lamb, William
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Schmidts, Miriam
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Dixon, Mellisa
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Patel-King, Ramila S.
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Rogers, Andrew V.
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Rutman, Andrew
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Jackson, Claire L.
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Goggin, Patricia
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Rubbo, Bruna
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Ollosson, Sarah
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Carr, Siobhan
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Walker, Woolf
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Adler, Beryl
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Loebinger, Michael R.
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Wilson, Robert
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Bush, Andrew
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Williams, Hywel
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Boustred, Christopher
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Jenkins, Lucy
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Sheridan, Eamonn
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Chung, Eddie M.K.
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Watson, Christopher M.
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Cullup, Thomas
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Lucas, Jane S.
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Kenia, Priti
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O'Callaghan, Christopher
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King, Stephen M.
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Hogg, Claire
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Mitchison, Hannah M.
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Shoemark, Amelia, Moya, Eduardo, Hirst, Robert A., Patel, M.P., Robson, Evelyn A., Hayward, Jane, Scully, Juliet, Fassad, Mahmoud R., Lamb, William, Schmidts, Miriam, Dixon, Mellisa, Patel-King, Ramila S., Rogers, Andrew V., Rutman, Andrew, Jackson, Claire L., Goggin, Patricia, Rubbo, Bruna, Ollosson, Sarah, Carr, Siobhan, Walker, Woolf, Adler, Beryl, Loebinger, Michael R., Wilson, Robert, Bush, Andrew, Williams, Hywel, Boustred, Christopher, Jenkins, Lucy, Sheridan, Eamonn, Chung, Eddie M.K., Watson, Christopher M., Cullup, Thomas, Lucas, Jane S., Kenia, Priti, O'Callaghan, Christopher, King, Stephen M., Hogg, Claire and Mitchison, Hannah M. (2017) A high prevalence CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. Thorax. (doi:10.1136/thoraxjnl-2017-209999).

Record type: Article
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More information

Accepted/In Press date: 3 July 2017
e-pub ahead of print date: 8 August 2017
Keywords: primary ciliary dyskinesia
Organisations: Allergy & Inflammation Research, Education Hub, Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 412033
URI: http://eprints.soton.ac.uk/id/eprint/412033
DOI: doi:10.1136/thoraxjnl-2017-209999
ISSN: 0040-6376
PURE UUID: a0483e85-6b8b-446d-a77c-9caa687ee1c2
ORCID for Claire L. Jackson: ORCID iD orcid.org/0000-0002-1200-0935
ORCID for Bruna Rubbo: ORCID iD orcid.org/0000-0002-1629-8601
ORCID for Jane S. Lucas: ORCID iD orcid.org/0000-0001-8701-9975

Catalogue record

Date deposited: 05 Jul 2017 16:31
Last modified: 12 Jun 2024 04:04

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Contributors

Author: Amelia Shoemark
Author: Eduardo Moya
Author: Robert A. Hirst
Author: M.P. Patel
Author: Evelyn A. Robson
Author: Jane Hayward
Author: Juliet Scully
Author: Mahmoud R. Fassad
Author: William Lamb
Author: Miriam Schmidts
Author: Mellisa Dixon
Author: Ramila S. Patel-King
Author: Andrew V. Rogers
Author: Andrew Rutman
Author: Claire L. Jackson ORCID iD
Author: Patricia Goggin
Author: Bruna Rubbo ORCID iD
Author: Sarah Ollosson
Author: Siobhan Carr
Author: Woolf Walker
Author: Beryl Adler
Author: Michael R. Loebinger
Author: Robert Wilson
Author: Andrew Bush
Author: Hywel Williams
Author: Christopher Boustred
Author: Lucy Jenkins
Author: Eamonn Sheridan
Author: Eddie M.K. Chung
Author: Christopher M. Watson
Author: Thomas Cullup
Author: Jane S. Lucas ORCID iD
Author: Priti Kenia
Author: Christopher O'Callaghan
Author: Stephen M. King
Author: Claire Hogg
Author: Hannah M. Mitchison

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