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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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| Hauptverfasser: | , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nature Publishing Group
2013
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| Schlagworte: | |
| Online Zugang: | 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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