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

2.50
Hdl Handle:
http://hdl.handle.net/11287/620446
Title:
Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.
Authors:
Clissold, Rhian L. ( 0000-0002-3090-3492 ) ; Clarke, H. C.; Spasic-Boskovic, O.; Brugger, K.; Abbs, S.; Bingham, Coralie; Shaw-Smith, Charles
Abstract:
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 mutation discovered in an individual after forty years of renal disease.
Citation:
Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report. 2017, 18 (1):234 BMC Nephrol
Publisher:
BioMed Central
Journal:
BMC Nephrology
Issue Date:
12-Jul-2017
URI:
http://hdl.handle.net/11287/620446
DOI:
10.1186/s12882-017-0631-5
PubMed ID:
28701203
Additional Links:
https://www.biomedcentral.com/1471-2369/18/234
Note:
This article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.
Type:
Case Report
Language:
en
ISSN:
1471-2369
Appears in Collections:
Exeter Kidney Unit (Renal); Clinical Genetics (Peninsula Genetics); 2017 RD&E publications

Full metadata record

DC FieldValue Language
dc.contributor.authorClissold, Rhian L.en
dc.contributor.authorClarke, H. C.en
dc.contributor.authorSpasic-Boskovic, O.en
dc.contributor.authorBrugger, K.en
dc.contributor.authorAbbs, S.en
dc.contributor.authorBingham, Coralieen
dc.contributor.authorShaw-Smith, Charlesen
dc.date.accessioned2017-10-13T14:49:48Z-
dc.date.available2017-10-13T14:49:48Z-
dc.date.issued2017-07-12-
dc.identifier.citationDiscovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report. 2017, 18 (1):234 BMC Nephrolen
dc.identifier.issn1471-2369-
dc.identifier.pmid28701203-
dc.identifier.doi10.1186/s12882-017-0631-5-
dc.identifier.urihttp://hdl.handle.net/11287/620446-
dc.description.abstractHeterozygous 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 mutation discovered in an individual after forty years of renal disease.en
dc.language.isoenen
dc.publisherBioMed Centralen
dc.relation.urlhttps://www.biomedcentral.com/1471-2369/18/234en
dc.rightsArchived with thanks to BMC nephrology. This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.en
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titleDiscovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report.en
dc.typeCase Reporten
dc.identifier.journalBMC Nephrologyen
dc.description.noteThis article is freely available via Open Access. Click on the Additional Link above to access the full-text via the publisher's site.en
dc.type.versionPublisheden

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