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Updated: Jan 9, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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错误的F9变体热点与高质量蛋白质缺陷相关,导致B型血友病

Tirsa T van Duijl1,2, Samantha Gouw2, Ina Kronevska1

  • 1Department of Bleeding and Hemostasis, Sanquin Research, Amsterdam, The Netherlands.

Blood vessels, thrombosis & hemostasis
|December 8, 2025
PubMed
概括

在F9的遗传变异导致血友病B.从这些变异的质量缺陷可以干扰因子IX替代疗法,影响治疗的有效性和出血的表型.

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