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,...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Izdano u:Thorax
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: 2017
Teme:
Article
Online pristup: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
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!

Similar Items