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Article: A Chinese patient with non-HFE-linked iron overload
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TitleA Chinese patient with non-HFE-linked iron overload
 
AuthorsKng, C1 3
Ng, FH1 3
Ng, WF1 3
Wong, BCY1 3
Grosso, LE2
Brunt, EM2
Bacon, BR2
 
Issue Date2001
 
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.jcge.com
 
CitationJournal Of Clinical Gastroenterology, 2001, v. 33 n. 1, p. 69-71 [How to Cite?]
DOI: http://dx.doi.org/10.1097/00004836-200107000-00017
 
AbstractThe gene for hemochromatosis (HFE) was recently identified and contains two missense mutations: C282Y and H63D. The C282Y mutation is found homozygous in approximately 85% to 90% of patients of Northern European ancestry with hereditary hemochromatosis. There are no previous reports with results of genetic testing in Chinese patients with regard to iron overload. In this case report, we describe a Chinese woman with marked hepatic iron overload that was nonfamilial, with unusual biopsy findings, in whom neither the C282Y nor the H63D mutations in HFE were found.
 
ISSN0192-0790
2013 Impact Factor: 3.186
 
DOIhttp://dx.doi.org/10.1097/00004836-200107000-00017
 
ISI Accession Number IDWOS:000169668000017
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorKng, C
 
dc.contributor.authorNg, FH
 
dc.contributor.authorNg, WF
 
dc.contributor.authorWong, BCY
 
dc.contributor.authorGrosso, LE
 
dc.contributor.authorBrunt, EM
 
dc.contributor.authorBacon, BR
 
dc.date.accessioned2010-09-06T07:26:01Z
 
dc.date.available2010-09-06T07:26:01Z
 
dc.date.issued2001
 
dc.description.abstractThe gene for hemochromatosis (HFE) was recently identified and contains two missense mutations: C282Y and H63D. The C282Y mutation is found homozygous in approximately 85% to 90% of patients of Northern European ancestry with hereditary hemochromatosis. There are no previous reports with results of genetic testing in Chinese patients with regard to iron overload. In this case report, we describe a Chinese woman with marked hepatic iron overload that was nonfamilial, with unusual biopsy findings, in whom neither the C282Y nor the H63D mutations in HFE were found.
 
dc.description.naturelink_to_subscribed_fulltext
 
dc.identifier.citationJournal Of Clinical Gastroenterology, 2001, v. 33 n. 1, p. 69-71 [How to Cite?]
DOI: http://dx.doi.org/10.1097/00004836-200107000-00017
 
dc.identifier.doihttp://dx.doi.org/10.1097/00004836-200107000-00017
 
dc.identifier.epage71
 
dc.identifier.hkuros72204
 
dc.identifier.isiWOS:000169668000017
 
dc.identifier.issn0192-0790
2013 Impact Factor: 3.186
 
dc.identifier.issue1
 
dc.identifier.openurl
 
dc.identifier.pmid11418796
 
dc.identifier.scopuseid_2-s2.0-0034963264
 
dc.identifier.spage69
 
dc.identifier.urihttp://hdl.handle.net/10722/76890
 
dc.identifier.volume33
 
dc.languageeng
 
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.jcge.com
 
dc.publisher.placeUnited States
 
dc.relation.ispartofJournal of Clinical Gastroenterology
 
dc.relation.referencesReferences in Scopus
 
dc.rightsJournal of Clinical Gastroenterology. Copyright © Lippincott Williams & Wilkins.
 
dc.subject.meshAged
 
dc.subject.meshBiopsy
 
dc.subject.meshDNA Mutational Analysis
 
dc.subject.meshDiagnosis, Differential
 
dc.subject.meshFemale
 
dc.subject.meshHLA Antigens - genetics
 
dc.subject.meshHemochromatosis - genetics - pathology
 
dc.subject.meshHistocompatibility Antigens Class I - genetics
 
dc.subject.meshHong Kong
 
dc.subject.meshHumans
 
dc.subject.meshLiver - pathology
 
dc.subject.meshMembrane Proteins
 
dc.titleA Chinese patient with non-HFE-linked iron overload
 
dc.typeArticle
 
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<contributor.author>Grosso, LE</contributor.author>
<contributor.author>Brunt, EM</contributor.author>
<contributor.author>Bacon, BR</contributor.author>
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Author Affiliations
  1. The University of Hong Kong
  2. St. Louis University School of Medicine
  3. Ruttonjee Hospital Hong Kong