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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 | Schools: | Lee Kong Chian School of Medicine (LKCMedicine) | 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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