Severe protein C deficiency from compound heterozygous mutations in the PROC gene in two Korean adult patients
Author:
Publisher
Elsevier BV
Subject
Hematology
Reference19 articles.
1. Human plasma protein C: isolation, characterization, and mechanism of activation by alpha-thrombin;Kisiel;J Clin Invest,1979
2. The nucleotide sequence of the gene for human protein C;Foster;Proc Natl Acad Sci U S A,1985
3. Deficiency of protein C in congenital thrombotic disease;Griffin;J Clin Invest,1981
4. Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH.;Reitsma;Thromb Haemost,1995
5. Homozygous protein C deficiency manifested by massive venous thrombosis in the newborn;Seligsohn;N Engl J Med,1984
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1. Compound heterozygous protein C deficiency with pulmonary embolism caused by a novel PROC gene mutation: Case report and literature review;Medicine;2022-10-21
2. Severe protein C deficiency in a newborn caused by a homozygous pathogenic variant in the PROC gene: a case report;BMC Pediatrics;2021-10-16
3. Natural anticoagulant deficiencies in Thais: A population-based study;Thrombosis Research;2019-06
4. The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene;Pediatric Blood & Cancer;2017-01-23
5. Two novel compound heterozygous mutations associated with types I and II protein C deficiency with unusual phenotypes;Thrombosis Research;2016-09
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