Browsing by Subject "Homozygosity"
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(Hindawi Limited, 2014)We report a classic cystic fibrosis (CF) boy with a large deletion of exons 4-11 in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on one allele and p.Phe508del in exon 10 on the second allele. Both ...
Lack of association between the platelet glycoprotein Ia C807T gene polymorphism and coronary artery disease: A meta-analysis (2007)Background: The platelet-collagen receptor, glycoprotein (GP) la/lla plays a crucial role in the adhesion of platelets to fibrillar collagen, an event contributing to the pathogenesis of thrombosis. The C807T polymorphism ...