Please use this identifier to cite or link to this item: https://hdl.handle.net/10356/85852
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.
URI: https://hdl.handle.net/10356/85852
http://hdl.handle.net/10220/45279
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 (http://creativecommons.org/licenses/by/4.0/), 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 (http://creativecommons.org/publicdomain/zero/1.0/) 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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