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...

Full description

Saved in:
Bibliographic Details
Main Authors: Sana Alqarni, Baraah Alqarni, Abdulrahman Alsultan
Format: Article
Language:English
Published: Wiley 2023-01-01
Series:Case Reports in Medicine
Online Access:http://dx.doi.org/10.1155/2023/8872346
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items