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PROS1 유전자 돌연변이 환자에서 발생한 폐색전증

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Author(s)
진상찬
Journal Title
Keimyung Medical Journal
Issued Date
2014
Volume
33
Issue
1
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
진상찬. (2014). PROS1 유전자 돌연변이 환자에서 발생한 폐색전증. Keimyung Medical Journal, 33(1), 94–98.
Type
Article
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/15638
Appears in Collections:
2. Keimyung Medical Journal (계명의대 학술지) > 2014
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