Browsing by Subject "Homozygosity"
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Report
Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11
(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 ...
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Article
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 ...