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An association study on contrasting cystic fibrosis endophenotypes recognizes KRT8 but not KRT18 as a modifier of cystic fibrosis disease severity and CFTR mediated residual chloride secretion

BACKGROUND: F508del-CFTR, the most frequent disease-causing mutation among Caucasian cystic fibrosis (CF) patients, has been characterised as a mutant defective in protein folding, processing and trafficking. We have investigated the two neighbouring cytokeratin genes KRT8 and KRT18 in a candidate g...

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Detalhes bibliográficos
Main Authors: Stanke, Frauke, Hedtfeld, Silke, Becker, Tim, Tümmler, Burkhard
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2011
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3107781/
https://ncbi.nlm.nih.gov/pubmed/21548936
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-12-62
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