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

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

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...

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Bibliographic Details
Main Authors: Blumenstiel, Brendan, DeFelice, Matthew, Birsoy, Ozge, Bleyer, Anthony J., Kmoch, Stanislav, Carter, Todd A., Gnirke, Andreas, Kidd, Kendrah, Rehm, Heidi L., Ronco, Lucienne, Gabriel, Stacey, Lennon, Niall J., Lander, Eric Steven
Other Authors: Massachusetts Institute of Technology. Department of Biology
Format: Article
Language:en_US
Published: Elsevier 2017
Online Access:http://hdl.handle.net/1721.1/106520

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http://hdl.handle.net/1721.1/106520

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