کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3891877 | 1250056 | 2012 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
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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موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
بیماریهای کلیوی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
abstractVascular 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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Kidney Research and Clinical Practice - Volume 31, Issue 1, March 2012, Pages 72–75
Journal: Kidney Research and Clinical Practice - Volume 31, Issue 1, March 2012, Pages 72–75
نویسندگان
Eun Jin Cho, Yong Chul Kim, Jin Ho Hwang, Hajung Lee, Sung Sup Park, So Yeon Kim, Suhnggwon Kim, Ho Jun Chin,