Inherited dysfunctional platelet P2Y12 receptor mutations associated with bleeding disorders
نویسندگان
چکیده
منابع مشابه
Identification of a new dysfunctional platelet P2Y12 receptor variant associated with bleeding diathesis.
Defects of the platelet P2Y12 receptor (P2Y12R) for adenosine diphosphate (ADP) are associated with increased bleeding risk. The study of molecular abnormalities associated with inherited qualitative defects of the P2Y12R protein is useful to unravel structure-function relationships of the receptor. We describe the case of 2 brothers, sons of first cousins, with lifelong history of abnormal ble...
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The inherited platelet disorders are a heterogeneous collection of rare diseases that are infrequently encountered in clinical practice. They are, however, fascinating abnormalities, which have taught us a great deal about normal platelet biochemistry and physiology. In this section of the presentation we will review disorders of the platelet membrane, platelet granule packaging disorders, the ...
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ژورنال
عنوان ژورنال: Hämostaseologie
سال: 2016
ISSN: 0720-9355,2567-5761
DOI: 10.5482/hamo-16-03-0010