Prevalence in the General Population of a CFH Sequence Variant Associated with Atypical Haemolytic Uraemic Syndrome in an Extensive Family from Southwest England.

2.50
Hdl Handle:
http://hdl.handle.net/11287/609869
Title:
Prevalence in the General Population of a CFH Sequence Variant Associated with Atypical Haemolytic Uraemic Syndrome in an Extensive Family from Southwest England.
Authors:
Hamilton, Alexander J.; Lyons, C. B.; Goodship, T. H.; Bingham, Coralie
Abstract:
Twenty-five members of a family from the county of Devon in England have been affected by atypical haemolytic uraemic syndrome (aHUS) associated with a CFH mutation (c.3643C>G; p.Arg1215Gly). A 65-year-old male was diagnosed with aHUS after losing a renal transplant to a thrombotic microangiopathy. Subsequent mutation screening revealed the same CFH mutation without him being knowingly related to the local kindred. We designed a study to investigate the prevalence of this mutation in the local area. In addition, we examined the diagnoses of pre-existing haemodialysis patients to determine whether other patients might unknowingly be at risk of carrying the same CFH mutation.
Citation:
Prevalence in the General Population of a CFH Sequence Variant Associated with Atypical Haemolytic Uraemic Syndrome in an Extensive Family from Southwest England. 2013, 3 (1):86-90 Nephron Extra
Publisher:
Karger
Journal:
Nephron extra
Issue Date:
17-Sep-2013
URI:
http://hdl.handle.net/11287/609869
DOI:
10.1159/000354667
PubMed ID:
24163689
Additional Links:
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3806708/
Note:
This article is freely available via Open Access. Click on the 'Additional Link' above to access the full-text from the publisher's site.
Type:
Journal Article
Language:
en
ISSN:
1664-5529
Appears in Collections:
pre-2014 RD&E publications; Exeter Kidney Unit (Renal)

Full metadata record

DC FieldValue Language
dc.contributor.authorHamilton, Alexander J.en
dc.contributor.authorLyons, C. B.en
dc.contributor.authorGoodship, T. H.en
dc.contributor.authorBingham, Coralieen
dc.date.accessioned2016-05-19T13:06:58Zen
dc.date.available2016-05-19T13:06:58Zen
dc.date.issued2013-09-17en
dc.identifier.citationPrevalence in the General Population of a CFH Sequence Variant Associated with Atypical Haemolytic Uraemic Syndrome in an Extensive Family from Southwest England. 2013, 3 (1):86-90 Nephron Extraen
dc.identifier.issn1664-5529en
dc.identifier.pmid24163689en
dc.identifier.doi10.1159/000354667en
dc.identifier.urihttp://hdl.handle.net/11287/609869en
dc.description.abstractTwenty-five members of a family from the county of Devon in England have been affected by atypical haemolytic uraemic syndrome (aHUS) associated with a CFH mutation (c.3643C>G; p.Arg1215Gly). A 65-year-old male was diagnosed with aHUS after losing a renal transplant to a thrombotic microangiopathy. Subsequent mutation screening revealed the same CFH mutation without him being knowingly related to the local kindred. We designed a study to investigate the prevalence of this mutation in the local area. In addition, we examined the diagnoses of pre-existing haemodialysis patients to determine whether other patients might unknowingly be at risk of carrying the same CFH mutation.en
dc.language.isoenen
dc.publisherKargeren
dc.relation.urlhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3806708/en
dc.rightsArchived with thanks to Nephron extraen
dc.subjectWessex Classification Subject Headings::Surgery::Transplantationen
dc.subjectWessex Classification Subject Headings::Oncology. Pathology.::Geneticsen
dc.titlePrevalence in the General Population of a CFH Sequence Variant Associated with Atypical Haemolytic Uraemic Syndrome in an Extensive Family from Southwest England.en
dc.typeJournal Articleen
dc.identifier.journalNephron extraen
dc.description.noteThis article is freely available via Open Access. Click on the 'Additional Link' above to access the full-text from the publisher's site.en
dc.type.versionPublisheden

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