Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients.

Liang, Hai Po Helena; Morel-Kopp, Marie-Christine; Curtin, Julie; Wilson, Meredith; Hewson, John; Chen, Walter; Ward, Christopher M

Liang, Hai Po Helena; Morel-Kopp, Marie-Christine; Curtin, Julie; Wilson, Meredith; Hewson, John; Chen, Walter; Ward, Christopher M.

Affiliation

Liang HP; Northern Blood Research Centre, University of Sydney, Camperdown, Australia.

Thromb Haemost ; 98(6): 1298-308, 2007 Dec.

Article in En | MEDLINE | ID: mdl-18064328

Subject(s)

DiGeorge Syndrome/genetics; Hemorrhage/genetics; Loss of Heterozygosity; Platelet Aggregation/genetics; Platelet Glycoprotein GPIb-IX Complex/genetics; Blotting, Western; DNA Mutational Analysis; DiGeorge Syndrome/blood; DiGeorge Syndrome/complications; Flow Cytometry; Genotype; Hemorrhage/blood; Humans; Peptide Fragments/pharmacology; Phenotype; Platelet Aggregation/drug effects; Platelet Count; Platelet Function Tests/instrumentation; Platelet Glycoprotein GPIb-IX Complex/metabolism; Ristocetin/pharmacology

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Collection: 01-internacional Database: MEDLINE Main subject: Platelet Aggregation / Platelet Glycoprotein GPIb-IX Complex / Loss of Heterozygosity / DiGeorge Syndrome / Hemorrhage Limits: Humans Language: En Journal: Thromb Haemost Year: 2007 Document type: Article Affiliation country: Australia Country of publication: Germany

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