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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
2013 Impact Factor: 10.401
 
DOIhttp://dx.doi.org/10.1016/j.jhep.2005.09.013
 
ISI Accession Number IDWOS:000234445700037
 
ReferencesReferences in Scopus
 
DC FieldValue
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
2013 Impact Factor: 10.401
 
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
 
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<contributor.author>Lee, CY</contributor.author>
<contributor.author>Tong, SF</contributor.author>
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Author Affiliations
  1. Prince of Wales Hospital Hong Kong
  2. Caritas Medical Centre Hong Kong