Population
Platelets from a patient with a congenital bleeding disorder, and cells transfected with mutant P2Y12…
Comparison
ADP stimulation and genetic analysis of P2Y12… vs Normal platelets and cells transfected with…
Design
Preclinical
Authors
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Identifies critical P2Y12 residues for ADP signaling in rare bleeding; leaves open targeted therapies or genetic screening utility.
Identified specific structural mutations in the P2Y12 receptor that impair signal transduction and cause a congenital bleeding disorder, highlighting regions required for normal function after ADP binding.
Cattaneo et al. (2003) studied this question.
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