dc.contributor.authorBansal, Vikas
dc.contributor.authorGassenhuber, Johann
dc.contributor.authorPhillips, Tierney
dc.contributor.authorOliveira, Glenn
dc.contributor.authorHarbaugh, Rebecca
dc.contributor.authorVillarasa, Nikki
dc.contributor.authorTopol, Eric J.
dc.contributor.authorSeufferlein, Thomas
dc.contributor.authorBoehm, Bernhard Otto
dc.identifier.citationBansal, 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-.en_US
dc.description.abstractDiagnosis 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.en_US
dc.description.sponsorshipMOE (Min. of Education, S’pore)en_US
dc.format.extent14 p.en_US
dc.relation.ispartofseriesBMC Medicineen_US
dc.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.en_US
dc.subjectHigh-throughput Sequencingen_US
dc.subjectMonogenic Diabetesen_US
dc.titleSpectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individualsen_US
dc.typeJournal Article
dc.contributor.schoolLee Kong Chian School of Medicineen_US
dc.description.versionPublished versionen_US

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