Key result
Platelet phenotyping and targeted gene sequencing identify receptor mutations suggesting mild bleeding is multifactorial.
Population
Patients with platelet dysfunction but normal platelet number, typically presenting with mild bleeding…
Design
Review
Authors
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May refine evaluation of unexplained mild bleeding; leaves open diagnostic utility and need for prospective validation.
Combining platelet phenotyping with targeted gene sequencing can help identify the multifactorial genetic basis of mild bleeding disorders in patients with normal platelet counts.
Watson et al. (2010) conducted a review in Platelet function disorders. Platelet phenotyping in combination with targeted gene sequencing was evaluated. Platelet phenotyping combined with targeted gene sequencing identified mutations in key platelet activation receptors, suggesting mild bleeding may be a multifactorial complex trait.
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