伊朗患者中甲基马龙酸性尿的基因突变谱

Mohadeseh Fathi1,2, Sheyda Khalilian1,2, Mohammad Miryounesi3

  • 1Student Research Committee, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Scientific reports
|May 12, 2025
PubMed
概括

这项研究调查了导致伊朗患者甲基马龙酸性尿症 (MMA) 的遗传突变. 最常发生变异的基因是MMACHC基因,发现了五种新型变异,为MMA相关的遗传变异提供了有价值的数据.

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