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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Үндсэн зохиолчид:	Vikas Bansal, Johann Gassenhuber, Tierney Phillips, Glenn Oliveira, Rebecca Harbaugh, Nikki Villarasa, Eric J. Topol, Thomas Seufferlein, Bernhard O. Boehm
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	BMC 2017-12-01
Цуврал:	BMC Medicine
Нөхцлүүд:	High-throughput sequencing Monogenic diabetes Pathogenic variants Type 2 diabetes MODY DNA pooling
Онлайн хандалт:	http://link.springer.com/article/10.1186/s12916-017-0977-3
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!