Article
Polymorphism in exon 6 of the human NT5E gene is associated with aortic valve calcification.
Nucleosides, nucleotides & nucleic acids - 1 Dec 2016
Kochan Zdzislaw, Karbowska Joanna, Gogga Patrycja, Kutryb-Zajac Barbara, Slominska Ewa M, Smolenski Ryszard T
Abstract excerpt
NT5E encodes ecto-5'-nucleotidase (e5NT, CD73) which hydrolyses extracellular AMP to adenosine. Adenosine has been shown to play a protective role against aortic valve calcification (AVC). We identified two nonsynonymous missense single nucleotide polymorphisms (c.1126A > G, p.T376A and c.1136T > C, p.M379T) in exon 6 of the human NT5E gene. Since both substitutions might affect e5NT activity and consequently...
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