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Analysis of phenotype and gene mutation in three pedigrees with inherited antithrombin deficiency
BACKGROUND: Inherited AT deficiency is an autosomal‐dominant thrombophilic disorder usually caused by various SERPINC1 defects associated with a high risk of recurrent venous thromboembolism. In this article, the phenotype, gene mutation, and molecular pathogenic mechanisms were determined in three...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9701880/ https://www.ncbi.nlm.nih.gov/pubmed/36268972 http://dx.doi.org/10.1002/jcla.24732 |