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[Clinical and genetic analysis of two families with combined defect in antithrombin and protein C genes].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 14 Feb 2026

Guo Y L, Shan T T, Zheng W J Y, Zhao C, Kong W Z, Jin P P, Dai J

Abstract excerpt

Objective: To analyze the clinical characteristics and genetic mutations in two families with combined antithrombin (AT) and protein C (PC) deficiency, and to explore the relationship between combined SERPINC1 and PROC gene mutations and disease development. Methods: The AT activity (AT∶A) , AT antigen (AT∶Ag) , PC activity (PC∶A) , PC antigen (PC∶Ag) , and protein S activity (PS∶A) of the probands and their...

Topics

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Antithrombin III
Antithrombin III Deficiency
PC gene
PROC gene
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Protein C Deficiency

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Open in PubMed Open full text

Identifiers

PMID: 41839631
DOI: 10.3760/cma.j.cn121090-20250509-00219
PMCID: PMC13008568

Genes

PC
PROC
SERPINC1
CAT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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