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Updated: May 27, 2025

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HMCN1变种加剧了表皮溶解,牛简单的表型

Shir Bergson1,2, Ofer Sarig1, Moshe Giladi2,3

  • 1Division of Dermatology, Tel Aviv Medical Center, Tel Aviv, Israel.

The Journal of experimental medicine
|February 20, 2025
PubMed
概括

在HMCN1的遗传变异加剧了表皮质溶解牛简体 (EBS) 的严重程度. 黑米森丁-1 结合基氨酸14,稳定基底膜区域,影响皮肤中中间线索的形成.

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