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Article

Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition.

Journal of the American Society of Nephrology : JASN - 1 Sept 2018

Knaup Karl X, Hackenbeck Thomas, Popp Bernt, Stoeckert Johanna, Wenzel Andrea, Büttner-Herold Maike, Pfister Frederick, Schueler Markus, Seven Didem, May Annette M, Halbritter Jan, Gröne Hermann-Josef, Reis André, Beck Bodo B, Amann Kerstin, Ekici Arif B, Wiesener Michael S

Abstract excerpt

BACKGROUND: Providing the correct diagnosis for patients with tubulointerstitial kidney disease and secondary degenerative disorders, such as hypertension, remains a challenge. The autosomal dominant tubulointerstitial kidney disease (ADTKD) subtype caused by MUC1 mutations (ADTKD-MUC1) is particularly difficult to diagnose, because the mutational hotspot is a complex repeat domain, inaccessible with routine...

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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: 30049680
DOI: 10.1681/ASN.2018030245
PMCID: PMC6115663

Genes

MUC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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