New genetic variant in the SERPINC1 gene: hereditary Antithrombin deficiency case report, familial thrombosis and considerations on genetic counseling
Abstract Background Inherited deficiency of the antithrombin (hereditary antithrombin deficiency, AT deficiency, OMIM #613118) is a relatively rare (1:2000-3000) autosomal-dominant disorder with high risk of venous thromboembolism. Mutations in the serpin family C member 1 gene (SERPINC1) can lead t...
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| Ngā kaituhi matua: | , |
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| Hōputu: | Pukapuka |
| I whakaputaina: |
BMC,
2020-04-01T00:00:00Z.
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Ipurangi
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A1234.567 |
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