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Article

The significance of F139V mutation on thrombotic events in compound heterozygous and homozygous protein C deficiency.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis - 1 Dec 2014

Yang Li-hong, Zheng Fang-xiu, Chen Yi, Jin Yan-hui, Zhang Zhuo, Xie Hai-xiao, Yang Xiao-li, Wang Ming-shan, Chen Bi-cheng

Abstract excerpt

Both compound heterozygous and homozygous protein C deficiencies (PCDs) can cause lethal thrombotic events in children. This study investigated the significance of F139V mutation in activation of protein C in heterozygous and biallelic PCD. Two pedigrees with three probands were recruited, including heterozygous, compound heterozygous, and homozygous PCD and non-PCD families. The plasma levels of protein C...

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Source

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PMID: 24911457
DOI: 10.1097/MBC.0000000000000153

Genes

PROC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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