Article

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

2021-09-30

Abstract excerpt

<h4>ABSTRACT</h4> Exome sequencing (ES) studies in chronic kidney disease (CKD) cohorts could identify pathogenic variants in ∼10% of patients. This implies underdiagnosis of hereditary CKD. Tubulointerstitial kidney diseases, showing no typical clinical/histologic finding but tubulointerstitial fibrosis, are particularly difficult to diagnose. We used a custom designed targeted panel (29 genes) and MUC1 -SNaPshot...

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Literature Corpus work: c84bcd66-083b-5a28-8107-75254db86397
DOI: 10.1101/2021.09.29.21264100

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