相关实验视频
Updated: Jul 10, 2025

06:33
Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
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[一个患有非典型血溶性尿素性综合征和脏范围蛋白尿症的儿童的遗传分析]
Dahai Wang1, Chunrong Shan, Tingting Gao
1Department of Pediatric Nephrology, Rheumatology and Immunology, the Affiliated Hospital of Qingdao University, Qingdao, Shandong 266003, China. qylinyi@163.com.
概括
这项研究在患有非典型血清性尿素综合征 (aHUS) 和性蛋白尿症的婴儿中鉴定了DGKE基因中的复合异合体变异. 查DGKE基因变异对于在患有类似疾病的幼儿中诊断aHUS至关重要.
科学领域:
- 儿科脏病学 儿科脏病学
- 医学遗传学 医学遗传学
- 分子诊断学 分子诊断学
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