A frameshift mutation leading to type 1 antithrombin deficiency and thrombosis
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چکیده
منابع مشابه
A frameshift mutation leading to type 1 antithrombin deficiency and thrombosis.
Type 1 antithrombin III (ATIII) deficiency, which is the commonest form of inherited ATIII defect, is characterized by a quantitative reduction in both immunologically and functionally detectable protein. This condition is associated with a high incidence of thromboembolic disorder. Previous investigations have shown that the ATIII genes in the majority of cases are grossly intact, but the prec...
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ژورنال
عنوان ژورنال: Blood
سال: 1990
ISSN: 0006-4971,1528-0020
DOI: 10.1182/blood.v76.11.2182.2182