Document Detail


Protein S Tokushima: an abnormal protein S found in a Japanese family with thrombosis.
MedLine Citation:
PMID:  8236127     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
T Shigekiyo; Y Uno; S Kawauchi; S Saito; H Hondo; J Nishioka; T Hayashi; K Suzuki
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Thrombosis and haemostasis     Volume:  70     ISSN:  0340-6245     ISO Abbreviation:  Thromb. Haemost.     Publication Date:  1993 Aug 
Date Detail:
Created Date:  1993-11-26     Completed Date:  1993-11-26     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7608063     Medline TA:  Thromb Haemost     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  244-6     Citation Subset:  IM    
Affiliation:
First Department of Internal Medicine, School of Medicine, University of Tokushima, Japan.
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MeSH Terms
Descriptor/Qualifier:
Adult
Carrier Proteins / analysis
Female
Fetal Death / etiology
Genes, Dominant
Humans
Immunoblotting
Integrin alphaXbeta2
Japan
Male
Middle Aged
Molecular Weight
Pedigree
Pregnancy
Pregnancy Complications, Hematologic / blood,  etiology
Protein S / genetics*,  isolation & purification
Recurrence
Thrombosis / blood,  genetics*
Chemical
Reg. No./Substance:
0/Carrier Proteins; 0/Integrin alphaXbeta2; 0/Protein S; 0/protein S Tokushima

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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