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DOI: 10.1055/s-0038-1649477
Protein S Tokushima: An Abnormal Protein S Found in a Japanese Family with Thrombosis
Publication History
Received 27 July 1992
Accepted after revision 11 February 1993
Publication Date:
04 July 2018 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00035024/199302/lookinside/thumbnails/10-1055-s-0038-1649477-1.jpg)
Summary
An abnormal protein S (PS) was found in a Japanese family with a high incidence of thrombosis. The proband is a woman who was born in Tokushima Prefecture. She had superior sagittal sinus thrombosis, thrombophlebitis of the left leg, and thrombosis of the placenta. She had a normal plasma level of free PS antigen but decreased PS activity. Her mother and aunt also had thrombophlebitis of the leg, and together with four other family members also showed a normal level but decreased activity of PS. This suggests that hereditary dysfunction of PS is inherited in this family as an autosomal dominant trait. The proband’s PS appears to have a slightly higher molecular weight than normal PS both in the intact and modified form, suggesting that it has a molecular defect on the carboxyl-terminal side of the thrombin-sensitive site. This abnormal PS with apparently unique characteristics was named PS Tokushima.
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