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PROS1 유전자 돌연변이 환자에서 발생한 폐색전증

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Journal Title
Keimyung Medical Journal
Issued Date
2014
Keyword
PROS1Protein S deficiencyPulmonary embolism
Abstract
Pulmonary embolism (PE) is a serious clinical problem in patients with acquired risk factor such as cancer, immobilization, recent trauma and surgery. However PE may occur in hereditary thrombophilia like protein S deficiency which is caused by PROS1 gene mutation. The author reports a case of pulmonary embolism in a 33-year-old man with protein S deficiency and PROS1 gene mutation. Genetic analysis of the patient showed mutation 1063C→T in exon 10 of PROS1 gene, resulting in a substitution of arginine by cystine at position 355 (R355C).
Alternative Title
Pulmonary Thromboembolism Caused by PROS1 Gene Mutation
Publisher
Keimyung University School of Medicine
Citation
Keimyung Medical Journal, Vol.33(1) : 94-98, 2014
Type
Article
URI
http://kumel.medlib.dsmc.or.kr/handle/2015.oak/15638
Appears in Collections:
2. Keimyung Medical Journal (계명의대 학술지) > 2014
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