Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.
<h4>Background</h4>Cystic Fibrosis (CF) is caused by ∼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 var...
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Autores principales: | Marisa Sousa, Maria F Servidoni, Adriana M Vinagre, Anabela S Ramalho, Luciana C Bonadia, Verónica Felício, Maria A Ribeiro, Inna Uliyakina, Fernando A Marson, Arthur Kmit, Silvia R Cardoso, José D Ribeiro, Carmen S Bertuzzo, Lisete Sousa, Karl Kunzelmann, Antônio F Ribeiro, Margarida D Amaral |
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Formato: | article |
Lenguaje: | EN |
Publicado: |
Public Library of Science (PLoS)
2012
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Materias: | |
Acceso en línea: | https://doaj.org/article/2860c930e59242669d87fa4093d5ef95 |
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