title: New mutation affecting hypoxanthine phosphoribosyltransferase responsible for severe tophaceous gout.
authors.affiliation: Service de Rhumatologie, CHU Hôpital Gabriel Montpied, Clermond-Ferrand.
authors.forename: Clément
authors.initials: C
authors.lastname: Lahaye
authors.affiliation: Sanofi Research and Development, Exploratory Unit, Chilly-Mazarin.
authors.forename: Franck
authors.initials: F
authors.lastname: Augé
authors.affiliation: Service de Rhumatologie, CHU Hôpital Gabriel Montpied, Clermond-Ferrand.
authors.forename: Martin
authors.initials: M
authors.lastname: Soubrier
authors.affiliation: Laboratoire de Biochimie métabolomique et protéomique, Université Paris Descartes, Sorbonne Paris Cité, et Hôpital Universitaire Necker-Enfants Malades, APHP, Paris, France. irene.ceballos@nck.aphp.fr.
authors.forename: Irène
authors.initials: I
authors.lastname: Ceballos-Picot
mesh_terms: D006073:Gout / Q000235:genetics*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D008297:Male; D009154:Mutation; D055815:Young Adult
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase