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Antithrombin Murcia (K241E) causing antithrombin deficiency: a possible role for altered glycosylation
BACKGROUND: Identification of mutations in the SERPINC1 gene has revealed different mechanisms responsible for antithrombin deficiency. Deletions and nonsense mutations associate with type I deficiency. Certain missense mutations cause type II deficiency by affecting the heparin binding site or the...
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| 主要な著者: | , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Ferrata Storti Foundation
2010
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2913085/ https://ncbi.nlm.nih.gov/pubmed/20435622 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3324/haematol.2009.015487 |
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