Protein C deficiency; PROC gene variants in a Danish population.
Thrombosis Research(2020)
摘要
•PROC gene variants were identified in a Danish population by sequencing (N = 46).•Variants were identified in 20/30 participants diagnosed with protein C deficiency.•Ten different single nucleotide variants were detected; five variants were novel.•An association between biochemical severity and the presence of a variant was found.•Thromboembolic risk did not differ between participants with and without a variant.
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关键词
Protein C deficiency,Gene variants,Sequencing,Venous thromboembolism,PROC gene
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