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Article

A Compound Heterozygosis of Two Novel Mutations in vWF Exacerbates vWD in a Chinese Pedigree.

Clinical laboratory - 1 Feb 2024

Hu Jiajia, Yu He, Wang Wuchao, Li Jinfang, Xu Qinzhu, Rong Jiang, Lu Songsong

Abstract excerpt

BACKGROUND: von Willebrand disease (vWD), caused by mutations in the von Willebrand factor (vWF) coding gene, is a disease characterized by abnormal coagulation activity and a severe tendency for hemorrhage. Therefore, identifying mutations in vWF is important for diagnosing congenital vWD. METHODS: We studied a 23-year-old male vWD patient and his parents. Clotting methods were used to determine activated...

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PMID: 38345986
DOI: 10.7754/Clin.Lab.2023.230707

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