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

RATIONALE: Primary Ciliary Dyskinesia (PCD) is a genetically heterogeneous condition characterized by progressive lung disease arising from abnormal cilia function. Approximately half of patients have situs inversus. The estimated prevalence of PCD in the UK South Asian population is 1:2,265. Early,...

সম্পূর্ণ বিবরণ

সংরক্ষণ করুন:
গ্রন্থ-পঞ্জীর বিবরন
প্রকাশিত:Thorax
প্রধান লেখক: 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, Ollosson, Sarah, Carr, Siobhán, Walker, Woolf, Adler, Beryl, Loebinger, Michael R., Wilson, Robert, Bush, Andrew, Williams, Hywel, Boustred, Christopher, Jenkins, Lucy, Sheridan, Eamonn, Watson, Christopher M., Cullup, Thomas, Lucas, Jane S, Kenia, Priti, O’Callaghan, Christopher, King, Stephen M., Hogg, Claire, Mitchison, Hannah M.
বিন্যাস: Artigo
ভাষা:Inglês
প্রকাশিত: 2017
বিষয়গুলি:
Article
অনলাইন ব্যবহার করুন:https://ncbi.nlm.nih.gov/pmc/articles/PMC5771957/
https://ncbi.nlm.nih.gov/pubmed/28790179
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/thoraxjnl-2017-209999
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