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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Main Authors: Blumenstiel, Brendan (Author), DeFelice, Matthew (Author), Birsoy, Ozge (Author), Bleyer, Anthony J. (Author), Kmoch, Stanislav (Author), Carter, Todd A. (Author), Gnirke, Andreas (Author), Kidd, Kendrah (Author), Rehm, Heidi L. (Author), Ronco, Lucienne (Author), Gabriel, Stacey (Author), Lennon, Niall J. (Author), Lander, Eric Steven (Contributor)
Other Authors: Massachusetts Institute of Technology. Department of Biology (Contributor)
Format: Article
Language:English
Published: Elsevier, 2017-01-18T14:49:32Z.
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