|
KMID : 0359920120310010072
|
|
Korean Journal of Nephrology
2012 Volume.31 No. 1 p.72 ~ p.75
|
|
|
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
|
|
Cho Eun-Jin
Kim Yong-Chul
Hwang Jin-ho
Lee Ha-Jeong
Park Sung-Sup
Kim So-Yeon
Kim Suhng-Gwon
Chin Ho-Jun
|
|
|
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.1417A4T, 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.
|
|
|
KEYWORD
|
|
|
PROS1, Protein S deficiency, Thrombosis
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
  
|