High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction

Hereditary Renal Hypouricemia Type 1 and Autosomal Dominant Polycystic Kidney Disease

(2015) Blanka Stiburkova et al.   AMERICAN JOURNAL OF THE MEDICAL SCIENCES

Hereditary Renal Hypouricemia: A New Role for Allopurinol?

(2013) Bhavna Bhasin et al.   AMERICAN JOURNAL OF MEDICINE

Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis

(2013) Blanka Stiburkova et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Simple and rapid detection method for the mutations in SLC22A12 that cause hypouricemia by allele-specific real-time polymerase chain reaction

(2012) Shota Takagi et al.   CLINICA CHIMICA ACTA

Acute kidney injury in two children caused by renal hypouricaemia type 2

(2012) Blanka Stiburkova et al.   PEDIATRIC NEPHROLOGY

Serum uric acid distribution according to SLC22A12 W258X genotype in a cross-sectional study of a general Japanese population

(2011) Nobuyuki Hamajima et al.   BMC Medical Genetics

Diagnostic Tests for Primary Renal Hypouricemia

(2011) Ivan Sebesta et al.   NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS

Clinical and Functional Characterization of URAT1 Variants

(2011) Velibor Tasic et al.   PLoS One

Association of Four Genetic Loci with Uric Acid Levels and Reduced Renal Function: The J-SHIPP Suita Study

(2010) Yasuharu Tabara et al.   AMERICAN JOURNAL OF NEPHROLOGY

Age and origin of the G774A mutation in SLC22A12 causing renal hypouricemia in Japanese

(2009) K Ichida et al.   CLINICAL GENETICS

Hypo-uricémie rénale héréditaire chez un sujet d’origine caucasienne : présentation d’un cas clinique et revue de la littérature

(2009) Georges Ouellet et al.   Nephrologie & Therapeutique