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Article: Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b

TitleResequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b
Authors
Lam, CWOrrico, AYan, MSCLaw, TYGalli, LBenedetti, ATong, SFSorrentino, V
Issue Date2006
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Citation
Clinica Chimica Acta, 2006, v. 374 n. 1-2, p. 147-148 How to Cite?
DOI: http://dx.doi.org/10.1016/j.cca.2006.04.003
Persistent Identifierhttp://hdl.handle.net/10722/148483
ISSN
0009-8981
2023 Impact Factor: 3.2
2023 SCImago Journal Rankings: 1.016
ISI Accession Number ID
WOS:000242040100022
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorLam, CWen_US
dc.contributor.authorOrrico, Aen_US
dc.contributor.authorYan, MSCen_US
dc.contributor.authorLaw, TYen_US
dc.contributor.authorGalli, Len_US
dc.contributor.authorBenedetti, Aen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorSorrentino, Ven_US
dc.date.accessioned2012-05-29T06:13:13Z-
dc.date.available2012-05-29T06:13:13Z-
dc.date.issued2006en_US
dc.identifier.citationClinica Chimica Acta, 2006, v. 374 n. 1-2, p. 147-148en_US
dc.identifier.issn0009-8981en_US
dc.identifier.urihttp://hdl.handle.net/10722/148483-
dc.languageengen_US
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/ccaen_US
dc.relation.ispartofClinica Chimica Actaen_US
dc.subject.meshAlternative Splicing - Geneticsen_US
dc.subject.meshAntiporters - Geneticsen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshGlycogen Storage Disease Type I - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshItalyen_US
dc.subject.meshMolecular Sequence Dataen_US
dc.subject.meshMonosaccharide Transport Proteins - Geneticsen_US
dc.subject.meshMutationen_US
dc.subject.meshPolymerase Chain Reactionen_US
dc.titleResequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1ben_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.cca.2006.04.003en_US
dc.identifier.pmid16716283en_US
dc.identifier.scopuseid_2-s2.0-33750007135en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-33750007135&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume374en_US
dc.identifier.issue1-2en_US
dc.identifier.spage147en_US
dc.identifier.epage148en_US
dc.identifier.isiWOS:000242040100022-
dc.publisher.placeNetherlandsen_US
dc.identifier.issnl0009-8981-

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