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Two novel compound heterozygous mutations associated with types I and II protein C deficiency with unusual phenotypes.

Thrombosis research - 1 Sept 2016

Deng Ming-Yang, Liu Zi-Xian, Huang Hai-Fan, Chen Yong-Heng, Luo Yu-Jiao, Sun Nan-Nan, Cheng Zhao, Yan Wen-Zhe, Zhang Guang-Sen

Abstract excerpt

INTRODUCTION: We diagnosed two Chinese hereditary PC deficiency families and identified two novel compound heterozygous mutations (p.Arg194Cys/Gly324Ser and p.Glu274X/Asp297His) in the protein C (PROC) gene. The probands were classified as types I and II PC deficiency. The aim of this article is to access the influence of the mutations on PC activity, antigen and protein structure, and to evaluate whether there...

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Identifiers

PMID: 27517348
DOI: 10.1016/j.thromres.2016.08.005

Genes

PROC

Variants

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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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