Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant Detection

Introduction: Patients with autosomal dominant tubulointerstitial kidney disease (ADTKD) usually present with nonspecific progressive chronic kidney disease (CKD) with mild to negative proteinuria and a family history. ADTKD-MUC1 leads to the formation of a frameshift protein that accumulates in the...

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Main Authors: Victor Fages, Florentin Bourre, Romain Larrue, Andrea Wenzel, Jean-Baptiste Gibier, Fabrice Bonte, Claire-Marie Dhaenens, Kendrah Kidd, Stanislav Kmoch, Anthony Bleyer, François Glowacki, Olivier Grunewald
Format: Article
Language:English
Published: Elsevier 2024-05-01
Series:Kidney International Reports
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Online Access:http://www.sciencedirect.com/science/article/pii/S2468024924000706
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