original ) (raw )Hypoxanthine‐guanine phosphoribosyltransferase deficiency in three brothers with gout: Characterization of a variant, HPRT Edinburgh , having altered isoelectric point, increased thermal lability and normal levels of messenger RNA
G. Nuki
Journal of Inherited Metabolic Disease, 1989
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Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase
Hang-korng Ea
Arthritis & Rheumatism, 2009
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New mutation affecting hypoxanthine phosphoribosyltransferase responsible for severe tophaceous gout
Clément Lahaye
The Journal of rheumatology, 2014
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Identification of two new nucleotide mutations (HPRTUtrecht and HPRTMadrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene
Juan Puig
Human Genetics, 1993
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Hypoxanthine-guanine phosphoribosylotransferase deficiency—The spectrum of Polish mutations
Ewa Popowska
Journal of Inherited Metabolic Disease
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Identification of two new nucleotide mutations (HPRT utrecht and HPRT madrid) in exon 3 of the human hypoxanthine-guanine phosphoribosyltransferase (HPRT) …
Marcel Tilanus
Human genetics, 1993
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Novel Hypoxanthine Guanine Phosphoribosyltransferase Gene Mutations in Saudi Arabian Hyperuricemia Patients
Mohammed Alanazi
BioMed Research International, 2014
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Kelley–Seegmiller syndrome due to a new variant of the hypoxanthine–guanine phosphoribosyltransferase (I136T) encoding gene (HPRT Marseille)
Bertrand Dussol
Journal of Inherited Metabolic Disease, 2000
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The Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase (HPRT) Deficiency
Teresa Moreno-Ramos
Medicine, 2001
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Molecular basis of hypoxanthine-guanine phosphoribosyltransferase deficiency in thirteen Spanish families Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #308 (1999) Online http://journals.wiley.com/1059-7794/pdf/mutation/308.pdf
Jesus Molano
Human Mutation, 2000
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Prioritization of Deleterious Variations in the Human Hypoxanthine-Guanine Phosphoribosyltransferase Gene
Mansour Dabirzadeh
Medical Laboratory Journal, 2018
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The SLC2A9 nonsynonymous Arg265His variant and gout: evidence for a population-specific effect on severity
Peter Gow
Arthritis Research & Therapy, 2011
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Gout inheritance in an extended Chinese family analyzed by whole-exome sequencing
Tony Marion
Medicine, 2020
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Systematic genetic analysis of early-onset gout: ABCG2 is the only associated locus
Fernando Perez-ruiz
Rheumatology, 2020
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The genetics of hyperuricaemia and gout
Anthony Reginato
Nature reviews. Rheumatology, 2012
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Recessive X-Linked Hyperuricemia with Gout and Renal Damage, Normal Activity of Hypoxanthine Phosphoribosyltransferase and Resistance to Azaguanine
Gunnar Westberg
Acta Medica Scandinavica, 1979
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Common variant of PDZK1, adaptor protein gene of urate transporters, is not associated with gout
Asahi Hishida
The Journal of rheumatology, 2014
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Absence of SLC22A12/URAT1 Gene Mutations in Patients with Primary Gout
Eugenio Miguel
The Journal of Rheumatology, 2012
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Associations and Combinations of Metabolic Parameters and ABCG2 rs2231142 Variant in Thai Men with Gout
Kitsarawut Khuancharee
Journal of Health Science and Medical Research (JHSMR), 2023
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Spectrum of point mutations in the coding region of the hypoxanthine- guanine phosphoribosyltransferase (hprt) gene in human T-lymphocytes in vivo
Bo Lambert
Carcinogenesis, 1998
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Genome-wide association study of clinically defined gout identifies multiple risk loci and its association with clinical subtypes
Mariko Naito
Annals of the rheumatic diseases, 2015
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Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase
Max Drabkin
Journal of Clinical Investigation
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Independent effects of ADH1B and ALDH2 common dysfunctional variants on gout risk
Mariko Naito
Scientific reports, 2017
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Molecular analysis of the SLC22A12 (URAT1) gene in patients with primary gout
Ruben Burgos-Vargas
Rheumatology, 2006
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GWAS of clinically defined gout and subtypes identifies multiple susceptibility loci that include urate transporter genes
Blanka Stiburkova
Annals of the rheumatic diseases, 2016
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Primary overproduction of urate caused by a partial deficiency of hypoxanthine-guanine phosphoribosyl transferase
Martin Gregory
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1980
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Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study
abbas dehghan
Lancet, 2008
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A novel missense mutation, c.584A>C (Y195S), in two unrelated Argentine patients with hypoxanthine–guanine phosphoribosyl-transferase deficiency, neurological variant
Norberto Guelbert
Molecular Genetics and Metabolism, 2004
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Common variant of PDZ domain containing 1 (PDZK1) gene is associated with gout susceptibility: A replication study and meta-analysis in Japanese population
Mariko Naito
Drug Metabolism and Pharmacokinetics, 2016
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Polymorphisms of ABCG2 and SLC22A12 Genes Associated with Gout Risk in Vietnamese Population
Nguyen Thang
Medicina, 2019
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Genetic analysis for rs2280205 (A>G) and rs2276961 (T>C) in SLC2A9 polymorphism for the susceptibility of gout in Cameroonians: a pilot study
Vicky Moor
BMC Research Notes
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