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Article

Molecular characterisation of Tyr530Ser and IVS16-1G>T mutations causing severe factor V deficiency.

Thrombosis and haemostasis - 1 Sept 2010

Zheng Weidong, Liu Yanhui, Luo Ying, Chen Zhihong, Wang Yan, Zhang Liyan, Gao Guoquan, Yao Zhibin

Abstract excerpt

Our previous study reported a missense mutation (Tyr530Ser) and a splicing site mutation (IVS16-1G>T) in blood coagulation factor V (FV) gene in a two-year-old Chinese boy. However, the linkage between the mutations and severe FV deficiency and the underlying mechanism has not been elucidated. Th...

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PMID: 20664902
DOI: 10.1160/TH09-10-0735

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20664902-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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