两个巴林兄弟姐妹的自身抗体阳性,具有新的α-甲基-CoA种族酶突变
Hasan M Isa1,2, Ahmed D Khudair3, Rachel A Marshall3
1Department of Pediatrics, Arabian Gulf University, Manama, BHR.
Cureus
|August 14, 2023
概括
由AMACR基因突变引起的4型胆酸合成障碍带来了独特的挑战. 这项研究详细介绍了两名患有新奇突变和相关自身免疫抗体的兄弟姐妹.
科学领域:
- 生物化学 生物化学
- 遗传学 遗传学 是一个
- 罕见疾病 罕见疾病
背景情况:
- 胆酸合成障碍 (BASD) 是一种罕见的自体逆向性疾病.
- 4型BASD涉及5p13.13染色体上的α-甲基-CoA种族酶 (AMACR) 基因的突变.
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