Spectrum of mutations in monogenic diabetes genes identified from high-throughput DNA sequencing of 6888 individuals

• المؤلفون الرئيسيون: Bansal, Vikas, Gassenhuber, Johann, Phillips, Tierney, Oliveira, Glenn, Harbaugh, Rebecca, Villarasa, Nikki, Topol, Eric J., Seufferlein, Thomas, Boehm, Bernhard Otto
• مؤلفون آخرون: Lee Kong Chian School of Medicine (LKCMedicine)
• التنسيق: مقال
• اللغة: English
• منشور في: 2018
• الموضوعات: High-throughput Sequencing; Monogenic Diabetes
• الوصول للمادة أونلاين: https://hdl.handle.net/10356/85852; http://hdl.handle.net/10220/45279

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 a...