Abstract：
:An as yet single family with a bleeding history is shown to present the characteristic lack of membrane expression of procoagulant phospholipids observed in Scott syndrome. Low prothrombin consumption in the serum of the propositus, a 71-year-old woman, and two of her children was the sole abnormal hemostasis parameter. The degree of exposure of procoagulant phospholipids, chiefly phosphatidylserine, was reduced in stimulated platelets, erythrocytes and Epstein-Barr virus-infected B lymphocytes. The data are compatible with homozygous status of the propositus and heterozygous status of her children. Scott syndrome appears to be transmitted as an autosomal recessive trait reflecting the deletion or mutation of a putative outward phosphatidylserine translocase. The detailed knowledge of this transporter could have an impact in membrane physiology.
journal_name
Bloodjournal_title
Bloodauthors
Toti F,Satta N,Fressinaud E,Meyer D,Freyssinet JMsubject
Has Abstractpub_date
1996-02-15 00:00:00pages
1409-15issue
4eissn
0006-4971issn
1528-0020journal_volume
87pub_type
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