Article
IMPDH2 genetic polymorphism: a promoter single-nucleotide polymorphism disrupts a cyclic adenosine monophosphate responsive element.
Genetic testing and molecular biomarkers - 1 Dec 2009
Garat Anne, Cauffiez Christelle, Hamdan-Khalil Rima, Glowacki François, Devos Aurore, Leclerc Julie, Lionet Arnaud, Allorge Delphine, Lo-Guidice Jean-Marc, Broly Franck
Abstract excerpt
Inosine 5'-monophosphate dehydrogenase (IMPDH), which catalyzes a key step in the de novo biosynthesis of guanine nucleotide, is mediated by two highly conserved isoforms, IMPDH1 and IMPDH2. In this study, IMPDH2 genetic polymorphism was investigated in 96 individuals of Caucasian origin. Four single-nucleotide polymorphisms were identified, comprising one previously described single base-pair substitution in the...
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