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Article

Inherited dysfunctional platelet P2Y12 receptor mutations associated with bleeding disorders.

Hamostaseologie - 7 Nov 2016

Lecchi Anna, Femia Eti A, Paoletta Silvia, Dupuis Arnaud, Ohlmann Philippe, Gachet Christian, Jacobson Kenneth A, Machura Katharina, Podda Gian M, Zieger Barbara, Cattaneo Marco

Abstract excerpt

The platelet adenosine 5'-diphosphate (ADP) receptor P2Y12 (P2Y12R) plays a critical role in platelet aggregation. The present report illustrates an update of dysfunctional platelet P2Y12R mutations diagnosed with congenital lifelong bleeding problems. Described patients with heterozygous or homozygous substitution in the P2Y12R gene and qualitative abnormalities of the platelet P2Y12R are summarized. Recently, a...

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Identifiers

PMID: 27487748
DOI: 10.5482/HAMO-16-03-0010
PMCID: PMC5099093

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Source receipt: pubmed, retrieved 7 Sept 2026.

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