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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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Detalles Bibliográficos
Autores principales:	Kolbe, Ernst-Wolfgang, Tamm, Stephanie, Hedtfeld, Silke, Becker, Tim, Tümmler, Burkhard, Stanke, Frauke
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2013
Materias:	Short Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658199/ https://www.ncbi.nlm.nih.gov/pubmed/23073314 http://dx.doi.org/10.1038/ejhg.2012.234

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