Atypical familial juvenile hyperuricemic nephropathy associated with a hepatocyte nuclear factor-1β gene mutation
- 1 May 2003
- journal article
- Published by Elsevier in Kidney International
- Vol. 63 (5) , 1645-1651
- https://doi.org/10.1046/j.1523-1755.2003.00903.x
Abstract
No abstract availableKeywords
This publication has 29 references indexed in Scilit:
- Molecular identification of a renal urate–anion exchanger that regulates blood urate levelsNature, 2002
- Solitary functioning kidney and diverse genital tract malformations associated with hepatocyte nuclear factor-1β mutationsKidney International, 2002
- Functional reconstitution, membrane targeting, genomic structure, and chromosomal localization of a human urate transporterJournal of Clinical Investigation, 2001
- Mutations in the Hepatocyte Nuclear Factor-1β Gene Are Associated with Familial Hypoplastic Glomerulocystic Kidney DiseaseAmerican Journal of Human Genetics, 2001
- Familial Juvenile Hyperuricemic Nephropathy: Localization of the Gene on Chromosome 16p11.2—and Evidence for Genetic HeterogeneityAmerican Journal of Human Genetics, 2000
- Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1β1Kidney International, 2000
- Identification of a New Locus for Medullary Cystic Disease, on Chromosome 16p12American Journal of Human Genetics, 1999
- Molecular Definition of a Novel Human Galectin Which Is Immunogenic in Patients with Hodgkin's DiseaseJournal of Biological Chemistry, 1997
- Molecular Cloning and Functional Reconstitution of a Urate Transporter/ChannelJournal of Biological Chemistry, 1997
- Familial hyperuricemic nephropathyAmerican Journal of Kidney Diseases, 1995