A patient with a history of coagulation disorders is found to have a mutation in the GP1BA gene. Which condition is most likely associated with this genetic mutation?
Explanation
The GP1BA gene encodes for the glycoprotein Ib-alpha subunit, which is essential for platelet adhesion. Mutations in this gene are associated with Bernard-Soulier syndrome, a rare bleeding disorder characterized by giant platelets and thrombocytopenia.
Source
Molecular biology and genetics resources











