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Updated: Jul 24, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

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

Published on: August 20, 2019

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SERPINF1基因变异导致晚发病的渐进性变形骨质发生不完美症 - - 一项针对印度18名患者的研究

Agnes Selina1, Madhavi Kandagaddala1, Vignesh Kumar1

  • 1Christian Medical College, Vellore, India.

Bone reports
|July 10, 2023
PubMed
概括

SERPINF1基因变异导致严重的骨质不完善 (OI) 与骨缺陷. 这项研究详细介绍了18名患者,突出了骨折,形和遗传发现,包括一次性突变.

关键词:
骨质发生不完美症 (osteogenesis imperfecta) 是一个不完美的疾病.颜料表皮衍生因子 (PEDF) 矿化缺陷在 SERPINF1 基因中.

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

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