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Article: Novel mutations in the BCHE gene in patients with no butyrylcholinesterase activity

TitleNovel mutations in the BCHE gene in patients with no butyrylcholinesterase activity
Authors
Issue Date2005
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Citation
Clinica Chimica Acta, 2005, v. 351 n. 1-2, p. 155-159 How to Cite?
AbstractButyrylcholinesterase (BCHE) deficiency is characterized by prolonged apnea after the use of certain muscle relaxants with the genetic defect lying in the BCHE gene. Two Chinese patients with no serum BCHE activity were studied. The BCHE genes were screened for mutations by polymerase chain reaction and direct DNA sequencing. Of the four mutations detected, two novel mutations were identified in the two patients, i.e., F474L, and an insertion of an adenine between nucleotide positions 395 and 396. This information was used to screen the immediate families of the patients for carrier status. We established the molecular basis of butyrylcholinesterase deficiency in two Chinese patients. The developed mutation detection assay provides a reliable method for identifying mutant BCHE carriers. © 2004 Elsevier B.V. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/148698
ISSN
2015 Impact Factor: 2.799
2015 SCImago Journal Rankings: 1.040
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorOnKei Chan, Aen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorMan Tung, Cen_US
dc.contributor.authorYung, Ken_US
dc.contributor.authorChan, YWen_US
dc.contributor.authorAu, KMen_US
dc.contributor.authorYuen, YPen_US
dc.contributor.authorHung, CTen_US
dc.contributor.authorNg, KPen_US
dc.contributor.authorShek, CCen_US
dc.date.accessioned2012-05-29T06:14:46Z-
dc.date.available2012-05-29T06:14:46Z-
dc.date.issued2005en_US
dc.identifier.citationClinica Chimica Acta, 2005, v. 351 n. 1-2, p. 155-159en_US
dc.identifier.issn0009-8981en_US
dc.identifier.urihttp://hdl.handle.net/10722/148698-
dc.description.abstractButyrylcholinesterase (BCHE) deficiency is characterized by prolonged apnea after the use of certain muscle relaxants with the genetic defect lying in the BCHE gene. Two Chinese patients with no serum BCHE activity were studied. The BCHE genes were screened for mutations by polymerase chain reaction and direct DNA sequencing. Of the four mutations detected, two novel mutations were identified in the two patients, i.e., F474L, and an insertion of an adenine between nucleotide positions 395 and 396. This information was used to screen the immediate families of the patients for carrier status. We established the molecular basis of butyrylcholinesterase deficiency in two Chinese patients. The developed mutation detection assay provides a reliable method for identifying mutant BCHE carriers. © 2004 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/ccaen_US
dc.relation.ispartofClinica Chimica Actaen_US
dc.subject.meshButyrylcholinesterase - Deficiency - Geneticsen_US
dc.subject.meshDna - Geneticsen_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshDna Primersen_US
dc.subject.meshElectrophoresis, Polyacrylamide Gelen_US
dc.subject.meshExons - Geneticsen_US
dc.subject.meshGenetic Testingen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHong Kongen_US
dc.subject.meshHumansen_US
dc.subject.meshMutation - Geneticsen_US
dc.subject.meshReverse Transcriptase Polymerase Chain Reactionen_US
dc.subject.meshTerminology As Topicen_US
dc.titleNovel mutations in the BCHE gene in patients with no butyrylcholinesterase activityen_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.cccn.2004.09.004en_US
dc.identifier.pmid15563885-
dc.identifier.scopuseid_2-s2.0-9444231672en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-9444231672&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume351en_US
dc.identifier.issue1-2en_US
dc.identifier.spage155en_US
dc.identifier.epage159en_US
dc.identifier.isiWOS:000225856000018-
dc.publisher.placeNetherlandsen_US

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