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Article

Functional characterization of two protein C variants causing type I deficiency via cellular degradation or retention.

International journal of hematology - 1 Feb 2026

Yasuda Ibuki, Nagaya Satomi, Yui Rikuto, Imai Yuta, Kuwajima Yamato, Morishita Eriko

Abstract excerpt

Hereditary protein C (PC) deficiency is a thrombotic disorder caused by variants in the PC gene (PROC). In this study, we identified a novel variant, p.Leu173Pro (L173P), and a previously reported variant, p.Val241Leu (V241L), in two unrelated Japanese families with venous thrombosis. We investigated the mechanisms by which these variants lead to type I PC deficiency. PC expression vectors were constructed and...

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Identifiers

PMID: 40991172
DOI: 10.1007/s12185-025-04072-3

Genes

PC
PROC

Variants

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