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.date.accessioned2018-07-27T01:36:11Z
dc.date.available2018-07-27T01:36:11Z
dc.date.issued2017
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.identifier.urihttp://hdl.handle.net/10220/45279
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.language.isoenen_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.identifier.doihttp://dx.doi.org/10.1186/s12916-017-0977-3
dc.description.versionPublished versionen_US


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