The c.1243T>C mutation in the PROC gene is linked with inherited protein C deficiency and severe purpura fulminans

The c.1243T>C mutation in the PROC gene is linked with inherited protein C deficiency and severe purpura fulminans

Key Clinical Message Purpura fulminans is a severe coagulation disorder that often leads to death in neonates. Mutations in the protein C (PROC) gene can cause protein C deficiency, leading to this disorder. This study aimed to investigate a family with a history of coagulopathies, particularly thos...

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Bibliographic Details
Main Authors: Seyed Mohammad Kazem Nourbakhsh, Mohammad Bahadoram, Ali Rashidi‐Nezhad, Laleh Habibi, Fatemeh Mansouri, Esma'il Akade
Format: Article
Language:English
Published: Wiley 2023-12-01
Series:Clinical Case Reports
Subjects:
next‐generation sequencing
PROC gene
protein C deficiency
purpura fulminans
venous thromboembolism
Online Access:https://doi.org/10.1002/ccr3.8280

Internet

https://doi.org/10.1002/ccr3.8280

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