Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum

Familial juvenile hyperuricaemic nephropathy (FJHN), an autosomal dominant disorder, is caused by mutations in the UMOD gene, which encodes Uromodulin, a glycosylphosphatidylinositol-anchored protein that is expressed in the thick ascending limb of the loop of Henle and excreted in the urine. Uromod...

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Detalhes bibliográficos
Main Authors: Williams, Siân E., Reed, Anita A.C., Galvanovskis, Juris, Antignac, Corinne, Goodship, Tim, Karet, Fiona E., Kotanko, Peter, Lhotta, Karl, Morinière, Vincent, Williams, Paul, Wong, William, Rorsman, Patrik, Thakker, Rajesh V.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2009
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2714724/
https://ncbi.nlm.nih.gov/pubmed/19465746
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp235
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