Article: A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2

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TitleA patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2
AuthorsLam, CW1
Cheung, KM2
Tsui, MS2
Yan, MSC1
Lee, CY2
Tong, SF1
Issue Date2006
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/jhep
CitationJournal Of Hepatology, 2006, v. 44 n. 1, p. 240-242 [How to Cite?]
DOI: http://dx.doi.org/10.1016/j.jhep.2005.09.013
AbstractWe describe a PFIC2 patient with a good response to ursodeoxycholic acid for 9 years. We found two novel ABCB11 gene mutations in the patient, i.e. I498T and 2098delA. The correlation of the patient's genotypes with the clinical course supports the existence of a phenotypic continuum between BRIC2 and PFIC2. © 2005 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.
ISSN0168-8278
2011 Impact Factor: 9.264
2011 SCImago Journal Rankings: 0.765
DOIhttp://dx.doi.org/10.1016/j.jhep.2005.09.013
ISI Accession Number IDWOS:000234445700037
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorLam, CW
dc.contributor.authorCheung, KM
dc.contributor.authorTsui, MS
dc.contributor.authorYan, MSC
dc.contributor.authorLee, CY
dc.contributor.authorTong, SF
dc.date.accessioned2012-05-29T06:12:58Z
dc.date.available2012-05-29T06:12:58Z
dc.date.issued2006
dc.description.abstractWe describe a PFIC2 patient with a good response to ursodeoxycholic acid for 9 years. We found two novel ABCB11 gene mutations in the patient, i.e. I498T and 2098delA. The correlation of the patient's genotypes with the clinical course supports the existence of a phenotypic continuum between BRIC2 and PFIC2. © 2005 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.
dc.description.natureLink_to_subscribed_fulltext
dc.identifier.citationJournal Of Hepatology, 2006, v. 44 n. 1, p. 240-242 [How to Cite?]
DOI: http://dx.doi.org/10.1016/j.jhep.2005.09.013
dc.identifier.doihttp://dx.doi.org/10.1016/j.jhep.2005.09.013
dc.identifier.epage242
dc.identifier.isiWOS:000234445700037
dc.identifier.issn0168-8278
2011 Impact Factor: 9.264
2011 SCImago Journal Rankings: 0.765
dc.identifier.issue1
dc.identifier.pmid16290310
dc.identifier.scopuseid_2-s2.0-28844489919
dc.identifier.spage240
dc.identifier.urihttp://hdl.handle.net/10722/148436
dc.identifier.volume44
dc.languageeng
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/jhep
dc.publisher.placeNetherlands
dc.relation.ispartofJournal of Hepatology
dc.relation.referencesReferences in Scopus
dc.subject.meshAtp-Binding Cassette Transporters - Genetics
dc.subject.meshAdolescent
dc.subject.meshCholestasis, Intrahepatic - Genetics - Metabolism
dc.subject.meshDna - Genetics
dc.subject.meshDisease Progression
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshMutation
dc.subject.meshPhenotype
dc.subject.meshPolymerase Chain Reaction
dc.titleA patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2
dc.typeArticle
Author Affiliations
  1. Prince of Wales Hospital Hong Kong
  2. Caritas Medical Centre Hong Kong