一个新的Unc45a 5'utr变体在患有Aagenaes综合征的患者中
Turkan Turkut Tan1, Yusuf Can Dogan1, Zehra Burcu Yilmaz1
1Pediatric Genetics Department, Ege University Faculty of Medicine, Izmir, Turkey.
American journal of medical genetics. Part A
|January 31, 2025
概括
阿格纳斯综合征与新的UNC45A基因变异有关,包括5'-未翻译区域突变. 这扩大了对遗传学的理解,并突出了5'-UTRR.
科学领域:
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
- 分子生物学分子生物学
背景情况:
- 阿格内斯综合征 (LCS1) 是一种罕见的自体逆向性疾病,导致新生儿胆固醇症和淋巴.
- 遗传研究以前将LCS1与UNC45A基因的5个缩写{'-'}未翻译区域 (5个缩写{'-'}UTR) 的变异联系起来.
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