应用生物信息学工具进行血色素沉着病的分子遗传学研究

R. K. Mishra
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引用次数: 0

摘要

血色素沉着症是由HFE中的p.Cys282Tyr突变引起的。这项研究的目的是寻找来源不明的红细胞增多症患者的病因或疾病相关变异,这些患者来自一个具有明确血液标志物和其他先天性红细胞增多指标的家庭。本研究旨在创建一个新的血色素沉着症风险预测原型,并评估心理、临床和基因组数据,以提高预测模型的性能。在这篇综述中,建立了原发性铁过载、继发性铁过载和血色素沉着症病史的条件表征,以及用于治疗血色素沉着病的药物分子的分析。本文介绍了血色素沉着症基因品牌及其运作。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Molecular Genetic of Hemochromatosis Disease using Bioinformatics Tools
Hemochromatosis is caused by p.Cys282Tyr mutations in HFE. This study’s objective was to find causal or disease-related variations in people with erythrocytosis of unknown origin who came from a family with clear blood markers and other indicators of congenital erythrocytosis. This research aims to create a new hemochromatosis risk prediction prototype and evaluate psychographic, clinical, and genomic data to improve predictive model performance. In this review, a conditional characterization of primary iron overload, secondary iron overload, and hemochromatosis medical history is established, as well as an analysis of the drug molecules used to treat hemochromatosis. This paper provides Hemochromatosis Gene brand and its operation.
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来源期刊
Bioscience Biotechnology Research Communications
Bioscience Biotechnology Research Communications BIOTECHNOLOGY & APPLIED MICROBIOLOGY-
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