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Measurements of CFTR-Mediated Cl− Secretion in Human Rectal Biopsies Constitute a Robust Biomarker for Cystic Fibrosis Diagnosis and Prognosis

Hartl, Dominik ; Sousa, Marisa ; Servidoni, Maria F. ; Vinagre, Adriana M. ; Ramalho, Anabela S. ; Bonadia, Luciana C. ; Felício, Verónica ; Ribeiro, Maria A. ; Uliyakina, Inna ; Marson, Fernando A. ; Kmit, Arthur ; Cardoso, Silvia R. ; Ribeiro, José D. ; Bertuzzo, Carmen S. ; Sousa, Lisete ; Kunzelmann, Karl ; Ribeiro, Antônio F. ; Amaral, Margarida D.



Zusammenfassung

Background: Cystic Fibrosis (CF) is caused by similar to 1,900 mutations in the CF transmembrane conductance regulator (CFTR) gene encoding for a cAMP-regulated chloride (Cl-) channel expressed in several epithelia. Clinical features are dominated by respiratory symptoms, but there is variable organ involvement thus causing diagnostic dilemmas, especially for non-classic cases. ...

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