article_metadata: Joaquim Calado Augusta Gaspar Carla Clemente José Rueff
article_metadata: 10.1186/1471-2350-6-5
article_metadata: BMC Med Genet
article_metadata: 2005 Jan 27;6:5.
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/15673476/
article_metadata: Hyperuricemia / genetics Kidney Diseases / genetics Mucoproteins / genetics Mutation, Missense / genetics
article_metadata: Hyperuricemia / genetics Kidney Diseases / genetics Mucoproteins / genetics Mutation, Missense / genetics Case Reports Research Support, Non-U.S. Gov't Female Genes, Dominant Heterozygote Humans Middle Aged Uromodulin Mucoproteins UMOD protein, human Uromodulin
article_metadata: PMC548506
article_metadata: 15673476
article_metadata: A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy
article_metadata: 2005