Joaquim Calado Augusta Gaspar Carla Clemente José Rueff
10.1186/1471-2350-6-5
BMC Med Genet
2005 Jan 27;6:5.
CC BY
https://pubmed.ncbi.nlm.nih.gov/15673476/
Hyperuricemia / genetics Kidney Diseases / genetics Mucoproteins / genetics Mutation, Missense / genetics
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
PMC548506
15673476
A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy
2005