Synthesis of the hemostatic protein Von Willebrand factor (VWF) drives formation of endothelial storage organelles called Weibel-Palade bodies (WPBs). In the absence of VWF, angiogenic and inflammator

NIAID Data Ecosystem60

Summary of reported RET double mutations associated with MEN 2.

遗传病基因突变

多发性内分泌腺瘤病

Summary of reported RET double mutations associated with MEN 2.

Figshare2015-12-02 更新50

Main haemostatic findings of the VWD patients with quantitative VWF defects studied.

血管性血友病

止血功能评估

Main haemostatic findings of the VWD patients with quantitative VWF defects studied.

NIAID Data Ecosystem60

Additional file 3 of Personalised modelling of clinical heterogeneity between medium-chain acyl-CoA dehydrogenase patients

遗传病基因突变

精准医疗建模

Additional file 3: Table S1. Sanger Sequencing HepG2. Results of genotyping WT HepG2 cells and four MCAD-knockouts.

Figshare2023-11-19 更新60

Genetic mutations in the VWD patients studied.

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