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Clinical and Molecular Description of PKD1 and PKD2 Mutation Negative Carriers in ADPKD

University Hospital, Brest · 2014
ClinicalTrials.gov · Datasets · License: Public Domain · 2014
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chronic-kidney-diseasesgeneticna
The aim of this study is to identify families with ADPKD , characterize the phenotype and screen for mutations in known genes (PKD1 and PKD2, and then HNF1b and UMOD in PKD1 PKD2 negative carriers). Genome wide analysis will be performed in families without mutations identified.
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