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CLCA4 variants determine the manifestation of the cystic fibrosis basic defect in the intestine

The manifestation of the monogenic disease cystic fibrosis results from the cystic fibrosis transmembrane conductance regulator (CFTR)-mediated basic defect defined as an altered chloride transport. An association study using contrasting endophenotypes was conducted with 17 markers to allow fine-map...

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Detalhes bibliográficos
Main Authors: Kolbe, Ernst-Wolfgang, Tamm, Stephanie, Hedtfeld, Silke, Becker, Tim, Tümmler, Burkhard, Stanke, Frauke
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3658199/
https://ncbi.nlm.nih.gov/pubmed/23073314
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.234
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