案例报告:SLX4基因中的一种新型同卵性变异导致Fanconi贫血

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Updated: May 31, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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Sepideh Eisazaei1, Majid Naderi2, Dor Mohammad Kordi Tamandani3

  • 1Department of Biology, Faculty of Science, University of Sistan and Baluchestan, Zahedan, Iran.

Genetic testing and molecular biomarkers
|January 22, 2025
PubMed
概括

在SLX4基因,c.4921dupA>AC的新型遗传突变被确定为Fanconi贫血 (FA) 的原因. 这一发现为这种罕见的骨髓衰竭综合征提供了新的诊断和治疗见解.

关键词:
在FANCP中,FANCP是唯一的.芬科尼贫血症是什么意思在SLX4中使用.在WES WES中,您可以使用

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