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Article

Analysis of the Phenotype and Gene Mutations of Two Families With Combined Mutations of Anticoagulant Protein Genes.

Molecular genetics & genomic medicine - 1 Apr 2026

Guo Yueli, Shan Tingting, Zheng Wenjieying, Zhao Chun, Kong Wanzhong, Zou Xiaojing

Abstract excerpt

BACKGROUND: AT and PC are key components of the anticoagulant system. Mutations in their encoding genes, SERPINC1 and PROC, can lead to insufficient protein levels or impaired function, thereby increasing an individual's susceptibility to venous thromboembolism (VTE). In this study, we describe the clinical characteristics and functional effects of compound heterozygous mutations in SERPINC1 and PROC in two...

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Source

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Identifiers

PMID: 41888578
DOI: 10.1002/mgg3.70191
PMCID: PMC13140201

Genes

PC
PROC
SERPINC1
CAT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Analysis of the Phenotype and Gene Mutations of Two Families With Combined Mutations of Anticoagulant Protein Genes.PMID 41888578Read ↗

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