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

RationalePrimary ciliary dyskinesia is a genetically heterogeneous inherited condition characterised by progressive lung disease arising from abnormal cilia function. Approximately half of patients have situs inversus. The estimated prevalence of primary ciliary dyskinesia in the UK South Asian popu...

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Veröffentlicht in:	Thorax 2018-02, Vol.73 (2), p.157-166
Hauptverfasser:	Shoemark, Amelia, Moya, Eduardo, Hirst, Robert A, Patel, Mitali 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, Siobhán, 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, Mitchison, Hannah M
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Asians - genetics Biochemistry Child Child, Preschool Cohort Studies Defects Diagnostic tests Dyskinesia Female Genes Humans Kartagener Syndrome - ethnology Kartagener Syndrome - genetics Male Medical diagnosis Microscopy Microtubule-Associated Proteins - genetics Motility Mutation Mutation - genetics Pakistan - ethnology Patients Proteins United Kingdom Young Adult
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