Article
Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura.
Blood - 1 Feb 2008
Breunis Willemijn B, van Mirre Edwin, Bruin Marrie, Geissler Judy, de Boer Martin, Peters Marjolein, Roos Dirk, de Haas Masja, Koene Harry R, Kuijpers Taco W
Abstract excerpt
Gene copy number variation (CNV) and single nucleotide polymorphisms (SNPs) count as important sources for interindividual differences, including differential responsiveness to infection or predisposition to autoimmune disease as a result of unbalanced immunity. By developing an FCGR-specific multiplex ligation-dependent probe amplification assay, we were able to study a notoriously complex and highly homologous...
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