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Article

Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study.

European journal of human genetics : EJHG - 1 Dec 2022

Popp Bernt, Ekici Arif B, Knaup Karl X, Schneider Karen, Uebe Steffen, Park Jonghun, Bafna Vineet, Meiselbach Heike, Eckardt Kai-Uwe, Schiffer Mario, Reis André, Kraus Cornelia, Wiesener Michael

Abstract excerpt

Hereditary chronic kidney disease (CKD) appears to be more frequent than the clinical perception. Exome sequencing (ES) studies in CKD cohorts could identify pathogenic variants in ~10% of individuals. Tubulointerstitial kidney diseases, showing no typical clinical/histologic finding but tubulointerstitial fibrosis, are particularly difficult to diagnose. We used a targeted panel (29 genes) and MUC1-SNaPshot to...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 36100708
DOI: 10.1038/s41431-022-01177-9
PMCID: PMC9712573

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