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Molecular characterization of novel splice site mutation causing protein C deficiency.
Blood Coagul Fibrinolysis
July 2016
aSaudi Diagnostics Laboratory (SDL), Genetics Department, King Faisal Specialist Hospital and Research Centre bPediatric Hematology Division, Pediatrics Department, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Congenital protein C deficiency is an inherited coagulation disorder associated with an elevated risk of venous thromboembolism. A Saudi Arabian male from a consanguineous family was admitted to neonatal intensive care unit in his first days of life because of transient tachypnea and hematuria. Laboratory investigations determined low platelet and protein C deficiency.
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