Cargando…
Inherited antithrombin deficiency caused by a mutation in the SERPINC1 gene: A case report
Inherited antithrombin deficiency (ATD) is a major cause of thrombotic deficiency. Genetic testing is of great value in the diagnosis of hereditary thrombophilia. Herein, we report a case of inherited ATD admitted to our hospital. We include the results of genealogy and discuss the significance of g...
Autores principales: | Hou, Xinwei, Zhang, Kairu, Wu, Qian, Zhang, Mingyuan, Li, Li, Li, Hongwei |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9646493/ https://www.ncbi.nlm.nih.gov/pubmed/36343066 http://dx.doi.org/10.1097/MD.0000000000031240 |
Ejemplares similares
-
Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency
por: Wang, Han-lu, et al.
Publicado: (2023) -
Novel Mutation p.Asp374Val of SERPINC1 in a Turkish Family with Inherited Antithrombin Deficiency
por: Aslan, Deniz
Publicado: (2021) -
Utility of the SERPINC1 Gene Test in Ischemic Stroke Patients With Antithrombin Deficiency
por: Kim, Seondeuk, et al.
Publicado: (2022) -
Antithrombin Deficiency Is Associated with a Novel Homozygous Detrimental Mutation in SERPINC1 Gene in a Saudi Female
por: Alqarni, Sana, et al.
Publicado: (2023) -
A small deletion in SERPINC1 causes type I antithrombin deficiency by promoting endoplasmic reticulum stress
por: Su, Jingjing, et al.
Publicado: (2016)