Two novel compound heterozygous mutations associated with types I and II protein C deficiency with unusual phenotypes-Reference-Cited by-同舟云学术

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

Published:2016-09 Issue: Volume:145 Page:93-99
ISSN:0049-3848
Container-title:Thrombosis Research
language:en
Short-container-title:Thrombosis Research

Author:

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

Funder

National Natural Science Foundation of China

Publisher

Elsevier BV

Subject

Hematology

Reference26 articles.

1. The protein C pathway;Esmon;Chest,2003

2. Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect;Allaart;Lancet,1993

3. Human Gene Mutation Database (HGMD): 2003 update;Stenson;Hum. Mutat.,2003

4. Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population;Tang;PLoS One,2012

5. Ethnic diversity in the genetics of venous thromboembolism;Tang;Thromb. Haemost.,2015

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency;Annals of Hematology;2023-11-10

2. Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review;Medicine;2022-10-21

3. Molecular genetic analysis of inherited protein C deficiency caused by the novel large deletion across two exons of PROC;Thrombosis Research;2020-04

4. Pathogenic variants of PROC gene caused type I activity deficiency in a familial Chinese venous thrombosis;Journal of Cellular and Molecular Medicine;2019-07-23

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