Inherited predisposition to thrombosis
Thrombosis is a principal human affliction, killing hundreds of thousands and debilitating millions each year by myocardial infarction, pulmonary embolism, or stroke. The numerous causes of thrombosis include both hereditary and acquired conditions. Inherited predispositions to thrombosis are perhap...
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Veröffentlicht in: | Cell 1993-02, Vol.72 (4), p.477-480 |
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Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | Thrombosis is a principal human affliction, killing hundreds of thousands and debilitating millions each year by myocardial infarction, pulmonary embolism, or stroke. The numerous causes of thrombosis include both hereditary and acquired conditions. Inherited predispositions to thrombosis are perhaps the most disturbing clinically, because they affect patients at a younger age. There are a number of genes in which mutations are prothrombotic, including those encoding antithrombin III, protein C, protein S, and fibrinogen. Many candidate genes have been cloned and sequenced, and in most cases there is some understanding of structure, function, and physiology. Heterozygosity for a particular mutant allele can be clinically silent in some individuals but devastating in others. These differences could be due to differences in genetic background, i.e., variant alleles of other genes may exacerbate or diminish the effect of the primary genetic trait. Indeed, families in which a single trait is the sole determination of thrombosis risk are rare. |
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ISSN: | 0092-8674 1097-4172 |
DOI: | 10.1016/0092-8674(93)90063-V |