一个患有RFX6变异相关糖尿病的年轻男性的初始临床表现
Kazuhisa Akiba1,2, Hiroaki Zukeran2, Yukihiro Hasegawa2,3
1Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
概括
RFX6基因中的遗传变异与糖尿病有关. 这项案例研究表明,与RFX6相关的糖尿病可以呈现出血糖水平波动,因应生活方式的变化.
科学领域:
- 遗传学 是一个遗传学.
- 内分泌学 在内分泌学.
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 在13个家族中,RFX6基因中的异合体功能丧失变异与糖尿病有关.
- 这项研究侧重于一名患有糖尿病的年轻男性,他携带了RFX6.6中先前确定的异合体无意义变体 (p.Arg377Ter).
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