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HFE genotyping: Maximising the value for hemochromatosis patients and families

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dc.contributor.authorBassett, Mark
dc.date.accessioned2022-02-04T03:14:55Z
dc.date.issued2010
dc.date.updated2020-12-13T07:20:06Z
dc.description.abstractHFE genotyping is now firmly established as an essential diagnostic tool in the management of genetic hemochromatosis. If there is any uncertainty about the clinical value of HFE genotyping it is most likely directed at the non-C282Y genotypes. The article by Castiella et al. in this issue of the Journal focuses our attention on the significance of the H63D mutation in hemochromatosis, a topic that has been controversial. It is appropriate that this study should be reported from Spain where the H63D mutation is more common in the general population than in many other countries.en_AU
dc.format.mimetypeapplication/pdfen_AU
dc.identifier.issn0815-9319en_AU
dc.identifier.urihttp://hdl.handle.net/1885/259067
dc.language.isoen_AUen_AU
dc.publisherBlackwell Publishing Ltden_AU
dc.rights© 2010 Journal of Gastroenterology and Hepatology Foundation and Blackwell Publishing Asia Pty Ltden_AU
dc.sourceJournal of Gastroenterology and Hepatologyen_AU
dc.subjectferritinen_AU
dc.subjectHFE proteinen_AU
dc.subjectgene mutationen_AU
dc.subjecthemochromatosisen_AU
dc.subjectheterozygosityen_AU
dc.subjectgenotypeen_AU
dc.subjectGenetic Predisposition to Diseaseen_AU
dc.subjectiron overloaden_AU
dc.subjectEuropean Continental Ancestry Groupen_AU
dc.titleHFE genotyping: Maximising the value for hemochromatosis patients and familiesen_AU
dc.typeJournal articleen_AU
local.bibliographicCitation.issue7en_AU
local.bibliographicCitation.lastpage1188en_AU
local.bibliographicCitation.startpage1186en_AU
local.contributor.affiliationBassett, Mark, College of Health and Medicine, ANUen_AU
local.contributor.authoruidBassett, Mark, a117276en_AU
local.description.embargo2099-12-31
local.description.notesImported from ARIESen_AU
local.identifier.absfor110307 - Gastroenterology and Hepatologyen_AU
local.identifier.ariespublicationf2965xPUB1226en_AU
local.identifier.citationvolume25en_AU
local.identifier.doi10.1111/j.1440-1746.2010.06387.xen_AU
local.identifier.scopusID2-s2.0-77953978315
local.identifier.thomsonIDMEDLINE:20594244
local.publisher.urlhttps://www.wiley.com/en-gben_AU
local.type.statusPublished Versionen_AU

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