New genetic variant in the SERPINC1 gene: hereditary Antithrombin deficiency case report, familial thrombosis and considerations on genetic counseling

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 to Quanti...

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Detalles Bibliográficos
Autores principales: Polyak, Margarita E., Zaklyazminskaya, Elena V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7137186/
https://www.ncbi.nlm.nih.gov/pubmed/32252658
http://dx.doi.org/10.1186/s12881-020-01001-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7137186/
https://www.ncbi.nlm.nih.gov/pubmed/32252658
http://dx.doi.org/10.1186/s12881-020-01001-5

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