title: Novel dysfunctional variant in ABCG2 as a cause of severe tophaceous gout: biochemical, molecular genetics and functional analysis.
authors.affiliation: Institute of Rheumatology, Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic and stiburkova@revma.cz.
authors.forename: Blanka
authors.initials: B
authors.lastname: Stiburkova
authors.affiliation: Department of Pharmacy, University of Tokyo Hospital, Tokyo, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Miyata
authors.affiliation: Institute of Rheumatology.
authors.forename: Jakub
authors.initials: J
authors.lastname: Závada
authors.affiliation: Institute of Rheumatology.
authors.forename: Michal
authors.initials: M
authors.lastname: Tomčík
authors.affiliation: Institute of Rheumatology.
authors.forename: Karel
authors.initials: K
authors.lastname: Pavelka
authors.affiliation: Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic and.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Storkanova
authors.affiliation: Department of Pharmacy, University of Tokyo Hospital, Tokyo, Japan.
authors.forename: Yu
authors.initials: Y
authors.lastname: Toyoda
authors.affiliation: Department of Pharmacy, University of Tokyo Hospital, Tokyo, Japan.
authors.forename: Tappei
authors.initials: T
authors.lastname: Takada
authors.affiliation: Department of Pharmacy, University of Tokyo Hospital, Tokyo, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Suzuki
mesh_terms: D000070997:ATP Binding Cassette Transporter, Subfamily G, Member 2; D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000378:metabolism; D006073:Gout / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D006801:Humans; D008967:Molecular Biology; D009043:Motor Activity / Q000502:physiology*; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D011110:Polymorphism, Genetic; D012720:Severity of Illness Index
chemical_list: C116614:ABCG2 protein, human; D000070997:ATP Binding Cassette Transporter, Subfamily G, Member 2; D018528:ATP-Binding Cassette Transporters; D009363:Neoplasm Proteins