在患有膀功能障碍,失自症和胃肠功能障碍的患者中发现了新的CHRNA3变异
Asha Anand1, Vivek Shenoy2,3, Richard W Sutherland2,4
1Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
American journal of medical genetics. Part A
|January 9, 2024
概括
CHRNA3基因中的遗传变异与脏和尿路 (CAKUT) 的先天性异常有关. 这项研究强调了CAKUT和dysautonomia患者的CHRNA3突变,这表明该基因的作用更广泛.
科学领域:
- 遗传学 遗传学 是一个
- 发展生物学 发展生物学
- 腎臟病學 (nephrology) 是一種醫學專業.
背景情况:
- 和尿路的先天性异常 (CAKUT) 是先天性异常和早期发病的病的主要原因.
- 遗传因素是CAKUT的主要驱动因素,影响子宫内生殖尿路的发育.
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