Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report

BACKGROUND: Heterozygous mutations in the gene encoding renin (REN) cause autosomal dominant tubulointerstitial kidney disease (ADTKD), early-onset anaemia and hyperuricaemia; only four different mutations have been described in the published literature to date. We report a novel dominant REN mutati...

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Detalles Bibliográficos
Autores principales: Clissold, Rhian L., Clarke, Helen C., Spasic-Boskovic, Olivera, Brugger, Kim, Abbs, Stephen, Bingham, Coralie, Shaw-Smith, Charles
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5508479/
https://www.ncbi.nlm.nih.gov/pubmed/28701203
http://dx.doi.org/10.1186/s12882-017-0631-5

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