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Article

Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease.

The Journal of molecular diagnostics : JMD - 1 Jul 2016

Blumenstiel Brendan, DeFelice Matthew, Birsoy Ozge, Bleyer Anthony J, Kmoch Stanislav, Carter Todd A, Gnirke Andreas, Kidd Kendrah, Rehm Heidi L, Ronco Lucienne, Lander Eric S, Gabriel Stacey, Lennon Niall J

Abstract excerpt

Mucin-1 kidney disease, previously described as medullary cystic kidney disease type 1 (MCKD1, OMIM 174000), is an autosomal dominant tubulointerstitial kidney disease recently shown to be caused by a single-base insertion within the variable number tandem repeat region of the MUC1 gene. Because of variable age of disease onset and often subtle signs and symptoms, clinical diagnosis of mucin-1 kidney disease and...

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Identifiers

PMID: 27157321
DOI: 10.1016/j.jmoldx.2016.03.003

Genes

MUC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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