دورية أكاديمية
Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals
| العنوان: | Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals |
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| المؤلفون: | Bansal, Vikas, Gassenhuber, Johann, Phillips, Tierney, Oliveira, Glenn, Harbaugh, Rebecca, Villarasa, Nikki, Topol, Eric J., Seufferlein, Thomas, Boehm, Bernhard Otto |
| المساهمون: | Lee Kong Chian School of Medicine (LKCMedicine) |
| سنة النشر: | 2018 |
| المجموعة: | DR-NTU (Digital Repository at Nanyang Technological University, Singapore) |
| مصطلحات موضوعية: | High-throughput Sequencing, Monogenic Diabetes |
| الوصف: | 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. ; MOE (Min. of Education, S’pore) ; Published version |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | 14 p.; application/pdf |
| اللغة: | English |
| العلاقة: | BMC Medicine; 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-.; https://hdl.handle.net/10356/85852Test; http://hdl.handle.net/10220/45279Test |
| DOI: | 10.1186/s12916-017-0977-3 |
| الإتاحة: | https://doi.org/10.1186/s12916-017-0977-3Test https://hdl.handle.net/10356/85852Test http://hdl.handle.net/10220/45279Test |
| حقوق: | © 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/4.0Test/), 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/1.0Test/) applies to the data made available in this article, unless otherwise stated. |
| رقم الانضمام: | edsbas.963A5461 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1186/s12916-017-0977-3 |
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