Article
Analysis three abnormal Protein S genes in a patient with pulmonary embolism.
Thrombosis research - 1 Jun 2010
Ikejiri Makoto, Tsuji Akihiro, Wada Hideo, Sakamoto Yuko, Nishioka Junji, Ota Satoshi, Yamada Norikazu, Matsumoto Takeshi, Nakatani Kaname, Nobori Tsutomu, Itoh Masaki
Abstract excerpt
A protein S (PS) abnormality is a hereditary risk factor for thromboembolism. A 33-year-old female had a left deep vein thrombosis (DVT) and mild pulmonary embolism (PE). Her PS antigen level was 34.7% and the activity level was less than 10%. Genetic analysis identified three missense mutations in PS: the D38Y mutation in exon 3, and the T589I mutation and P626L mutations in exon 15. The D38Y mutation has not...
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