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Updated: Jun 22, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
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[对115例威尔逊病例的基因型-表型关系和遗传学研究]

J K Xia1, H F Ning2, X Luo1

  • 1Prenatal and Genetic Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology
|July 4, 2024
PubMed
概括

这项研究强调了对威尔逊病 (WD) 基因检测的重要性. 在ATP7B基因中常见的p.Arg778Leu突变与 homozygous 病例中较高的ALT水平和脑型 WD 相关.

关键词:
在ATP7B基因中,基因分析 基因分析肝细胞退化症 肝细胞退化症

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