Antithrombin Deficiency Is Associated with a Novel Homozygous Detrimental Mutation in SERPINC1 Gene in a Saudi Female

Antithrombin (AT) deficiency is a blood disorder associated with an increased tendency to form thrombosis. Hereditary AT deficiency is frequently caused by mutations in SERPINC1 gene. It is usually inherited as an autosomal dominant with variable penetrance. Homozygous pathogenic mutations in this g...

Descripción completa

Detalles Bibliográficos
Autores principales: Alqarni, Sana, Alqarni, Baraah, Alsultan, Abdulrahman
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10139800/
https://www.ncbi.nlm.nih.gov/pubmed/37124980
http://dx.doi.org/10.1155/2023/8872346

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10139800/
https://www.ncbi.nlm.nih.gov/pubmed/37124980
http://dx.doi.org/10.1155/2023/8872346

Ejemplares similares