Article
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations.
Thorax - 1 Feb 2018
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
Abstract excerpt
RATIONALE: Primary 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 population is 1:2265. Early, accurate diagnosis is key to implementing appropriate management but clinical diagnostic...
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