Inherited protein S deficiency due to a novel nonsense mutation in the PROS1 gene in the patient with recurrent vascular access thrombosis: A case report

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Abstract

Vascular access thrombosis is one of the major causes of morbidity in patients maintained on chronic hemodialysis. Thrombophilia has been recognized as a risk factor of vascular access thrombosis. The authors report a case of inherited protein S deficiency associated with vascular access thrombotic events. DNA sequence analysis of the PROS1 gene identified a novel heterozygous nonsense mutation in exon 10 by transition of AAG (lysine) to TAG (stop codon) at codon 473 (c.1417A>T, p.K473X). Results from the study suggest that the inherited protein S deficiency due to a PROS1 gene mutation may cause vascular access thrombosis in hemodialysis patients. © 2012. The Korean Society of Nephrology. Published by Elsevier. All rights reserved.

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Cho, E. J., Kim, Y. C., Hwang, J. H., Lee, H., Park, S. S., Kim, S. Y., … Chin, H. J. (2012). Inherited protein S deficiency due to a novel nonsense mutation in the PROS1 gene in the patient with recurrent vascular access thrombosis: A case report. Kidney Research and Clinical Practice, 31(1), 72–75. https://doi.org/10.1016/j.krcp.2011.12.003

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