在伊朗患者中ARSA突变的频谱具有元染色性白血病变异

Mohadeseh Fathi1,2, Sheyda Khalilian1,2, Mohammad Miryounesi2

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

Biochemical genetics
|January 13, 2025
PubMed
概括

这项研究在八名患有甲基染色性白血病 (MLD) 的伊朗患者中发现了arylsulfatase A (ARSA) 基因的突变. 这种人群中经常出现复发的ARSA突变,有助于未来的MLD查.

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