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

TitleA patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2
Authors
Lam, CWCheung, KMTsui, MSYan, MSCLee, CYTong, SF
KeywordsABCB11 gene
Benign recurrent intrahepatic cholestasis
BRIC2
PFIC2
Progressive familial intrahepatic cholestasis
Issue Date2006
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/jhep
Citation
Journal 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.
Persistent Identifierhttp://hdl.handle.net/10722/148436
ISSN
0168-8278
2021 Impact Factor: 30.083
2020 SCImago Journal Rankings: 7.112
ISI Accession Number ID
WOS:000234445700037
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorLam, CWen_US
dc.contributor.authorCheung, KMen_US
dc.contributor.authorTsui, MSen_US
dc.contributor.authorYan, MSCen_US
dc.contributor.authorLee, CYen_US
dc.contributor.authorTong, SFen_US
dc.date.accessioned2012-05-29T06:12:58Z-
dc.date.available2012-05-29T06:12:58Z-
dc.date.issued2006en_US
dc.identifier.citationJournal Of Hepatology, 2006, v. 44 n. 1, p. 240-242en_US
dc.identifier.issn0168-8278en_US
dc.identifier.urihttp://hdl.handle.net/10722/148436-
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.en_US
dc.languageengen_US
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/jhepen_US
dc.relation.ispartofJournal of Hepatologyen_US
dc.subjectABCB11 gene-
dc.subjectBenign recurrent intrahepatic cholestasis-
dc.subjectBRIC2-
dc.subjectPFIC2-
dc.subjectProgressive familial intrahepatic cholestasis-
dc.subject.meshAtp-Binding Cassette Transporters - Geneticsen_US
dc.subject.meshAdolescenten_US
dc.subject.meshCholestasis, Intrahepatic - Genetics - Metabolismen_US
dc.subject.meshDna - Geneticsen_US
dc.subject.meshDisease Progressionen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMutationen_US
dc.subject.meshPhenotypeen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.titleA patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2en_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1016/j.jhep.2005.09.013en_US
dc.identifier.pmid16290310en_US
dc.identifier.scopuseid_2-s2.0-28844489919en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-28844489919&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume44en_US
dc.identifier.issue1en_US
dc.identifier.spage240en_US
dc.identifier.epage242en_US
dc.identifier.isiWOS:000234445700037-
dc.publisher.placeNetherlandsen_US
dc.identifier.issnl0168-8278-

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