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Title: Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals
Authors: Bansal, Vikas
Gassenhuber, Johann
Phillips, Tierney
Oliveira, Glenn
Harbaugh, Rebecca
Villarasa, Nikki
Topol, Eric J.
Seufferlein, Thomas
Boehm, Bernhard Otto
Keywords: High-throughput Sequencing
Monogenic Diabetes
Issue Date: 2017
Source: Bansal, V., Gassenhuber, J., Phillips, T., Oliveira, G., Harbaugh, R., Villarasa, N., et al. (2017). Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals. BMC Medicine, 15(1), 213-.
Series/Report no.: BMC Medicine
Abstract: Diagnosis of monogenic as well as atypical forms of diabetes mellitus has important clinical implications for their specific diagnosis, prognosis, and targeted treatment. Single gene mutations that affect beta-cell function represent 1–2% of all cases of diabetes. However, phenotypic heterogeneity and lack of family history of diabetes can limit the diagnosis of monogenic forms of diabetes. Next-generation sequencing technologies provide an excellent opportunity to screen large numbers of individuals with a diagnosis of diabetes for mutations in disease-associated genes.
DOI: 10.1186/s12916-017-0977-3
Rights: © 2017 The Author(s). Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (, which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.
Fulltext Permission: open
Fulltext Availability: With Fulltext
Appears in Collections:LKCMedicine Journal Articles

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