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

Abstract Background 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, phenot...

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Autori principali:	Vikas Bansal, Johann Gassenhuber, Tierney Phillips, Glenn Oliveira, Rebecca Harbaugh, Nikki Villarasa, Eric J. Topol, Thomas Seufferlein, Bernhard O. Boehm
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2017-12-01
Serie:	BMC Medicine
Soggetti:	High-throughput sequencing Monogenic diabetes Pathogenic variants Type 2 diabetes MODY DNA pooling
Accesso online:	http://link.springer.com/article/10.1186/s12916-017-0977-3
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