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在WRN中发现了一种与维纳综合征相关的新突变 (p.I223fs)

Jushuang Wu1,2, Shuyao Pan2, Wei Lin2,3

  • 1Fujian Academy of Medical Sciences, Fuzhou, 350001, Fujian, China.

Endocrine
|October 19, 2023
PubMed
概括

这项研究在一名患有维纳综合征 (WS) 的中国患者中发现了一种新的WRN基因突变 (p.I223fs),这是一种罕见的过早衰老疾病. 这一发现扩大了已知的WS引起突变的谱.

关键词:
在 WRN 基因上.糖尿病是一种糖尿病.早期开始的衰老.框架移位突变是什么?沃尔纳综合征是什么意思 沃尔纳综合征是什么意思

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