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Updated: Jul 1, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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在患有De Novo病原性变异扰乱Krt14的儿童中的EBS

Anastasiya V Kosykh1, Irina I Ryumina2, Alexandra S Botkina3

  • 1Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Ostrovityanova 1, Moscow 117997, Russia.

International journal of molecular sciences
|March 13, 2024
PubMed
概括

这项研究确定了 Epidermolysis Bullosa Simplex (EBS) 的新遗传原因,这是一种罕见的皮肤疾病. 早期遗传检测对于诊断和管理婴儿这种水泡状况至关重要.

关键词:
这是一种de novo突变.皮肤表皮的表皮.皮肤溶解牛皮质简单单的简单.基因皮肤病的基因皮肤病.质素 14 14 质素

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