Abstract:
:Factor XI (plasma thromboplastin antecedent) deficiency is a blood coagulation abnormality occurring in high frequency in Ashkenazi Jews. Three independent point mutations that result in a blood coagulation abnormality have been identified in the factor XI gene of six unrelated Ashkenazi patients. These mutations either disrupt normal mRNA splicing (type I), cause premature polypeptide termination (type II), or result in a specific amino acid substitution (type III). The three different genotypes were present in the six patients as type I/II, type II/III, and type III/III. Thus far no correlation was found between the three genotypes and the bleeding tendency in these patients.
journal_name
Proc Natl Acad Sci U S Aauthors
Asakai R,Chung DW,Ratnoff OD,Davie EWdoi
10.1073/pnas.86.20.7667subject
Has Abstractpub_date
1989-10-01 00:00:00pages
7667-71issue
20eissn
0027-8424issn
1091-6490journal_volume
86pub_type
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journal_title:Proceedings of the National Academy of Sciences of the United States of America
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更新日期:2002-06-11 00:00:00
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journal_title:Proceedings of the National Academy of Sciences of the United States of America
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journal_title:Proceedings of the National Academy of Sciences of the United States of America
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journal_title:Proceedings of the National Academy of Sciences of the United States of America
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