在阿拉伯族裔中记录了一种新型FBP1基因突变:一个案例报告
Maher Almousa1, Mohammad Aljomaa2, Shekhey Hamey3
1Faculty of Medicine, Hama University, Hama, Syria. maher.almousa@syssr.org.
Journal of medical case reports
|April 8, 2024
概括
一个罕见的遗传性疾病,果糖-1,6-双酸酶缺乏症,在一个叙利亚儿童身上被发现,该儿童在FBP1基因中缺失了整个2元元. 这一发现表明,叙利亚和土耳其人口之间有共同的突变.
科学领域:
- 遗传学 是一个遗传学.
- 生物化学 生化学
- 儿科 儿科 儿科
背景情况:
- 果糖-1,6-双酸酶缺乏症是一种罕见的自体相逆性代谢障碍.
- 在FBP1基因中发生的突变,负责葡萄糖生成受损,表现出种族差异.
- 在土耳其人群中,Exon 2删除很常见.
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