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MODYX家族全外显子组测序的经验教训。

Lessons from whole-exome sequencing in MODYX families.

作者信息

Dusatkova Petra, Fang Mingyan, Pruhova Stepanka, Gjesing Anette P, Cinek Ondrej, Hansen Torben, Pedersen Oluf B, Xu Xun, Lebl Jan

机构信息

Department of Pediatrics, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

BGI-Shenzen, Shenzhen 518083, China.

出版信息

Diabetes Res Clin Pract. 2014 Jun;104(3):e72-4. doi: 10.1016/j.diabres.2014.03.008. Epub 2014 Mar 19.

DOI:10.1016/j.diabres.2014.03.008
PMID:24698406
Abstract

We report the first results from whole-exome sequencing performed in families with Maturity-Onset Diabetes of the Young without a known genetic cause of diabetes (MODYX). This next generation sequencing technique pointed out that routine testing of MODY needs constant awareness and regular re-evaluation of both clinical criteria and primer sequences.

摘要

我们报告了对无已知糖尿病遗传病因的青年发病型糖尿病（MODYX）家系进行全外显子组测序的首批结果。这种新一代测序技术指出，对MODY的常规检测需要持续关注并定期重新评估临床标准和引物序列。

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