Key result
A novel heterozygous substitution (p.W246L) in the GP1BA gene was identified in a patient with platelet-type von Willebrand disease, which was absent in 100 healthy controls.
Population
1 patient with severe bleeding symptoms, macrothrombocytopenia, and suspected Platelet-Type von Willebrand…
Comparison
GP1BA gene sequencing vs Unaffected mother and healthy controls
Design
Case_report
Authors
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Adds a candidate GP1BA variant to PT-VWD spectrum; functional validation and segregation studies needed before diagnostic adoption.
Case Report (n=102)
Identifies p.W246L as a novel mutation in the GP1BA gene responsible for Platelet-Type von Willebrand Disease.
Woods et al. (2014) conducted a case report in Platelet-type von Willebrand disease (PT-VWD) (n=102). GP1BA gene mutation (p.W246L) vs. Unaffected mother and healthy controls was evaluated on Identification of GP1BA gene mutation. A novel heterozygous substitution (p.W246L) in the GP1BA gene was identified in a patient with platelet-type von Willebrand disease, which was absent in 100 healthy controls.
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