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Article: Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia [2]

TitleNovel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia [2]
Authors
Poon, WTAu, KMChan, YWChan, KYChow, CBTong, SFLam, CW
KeywordsGLRA1
Hyperekplexia
Mutation
Issue Date2006
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Citation
Clinica Chimica Acta, 2006, v. 364 n. 1-2, p. 361-362 How to Cite?
DOI: http://dx.doi.org/10.1016/j.cca.2005.09.018
Persistent Identifierhttp://hdl.handle.net/10722/148445
ISSN
0009-8981
2023 Impact Factor: 3.2
2023 SCImago Journal Rankings: 1.016
ISI Accession Number ID
WOS:000235376800049
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorPoon, WTen_US
dc.contributor.authorAu, KMen_US
dc.contributor.authorChan, YWen_US
dc.contributor.authorChan, KYen_US
dc.contributor.authorChow, CBen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorLam, CWen_US
dc.date.accessioned2012-05-29T06:13:02Z-
dc.date.available2012-05-29T06:13:02Z-
dc.date.issued2006en_US
dc.identifier.citationClinica Chimica Acta, 2006, v. 364 n. 1-2, p. 361-362en_US
dc.identifier.issn0009-8981en_US
dc.identifier.urihttp://hdl.handle.net/10722/148445-
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.subjectGLRA1-
dc.subjectHyperekplexia-
dc.subjectMutation-
dc.subject.meshAnticonvulsants - Therapeutic Useen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshClonazepam - Therapeutic Useen_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshFemaleen_US
dc.subject.meshFollow-Up Studiesen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshInfant, Newbornen_US
dc.subject.meshMutation, Missenseen_US
dc.subject.meshReceptors, Glycine - Geneticsen_US
dc.subject.meshSequence Homology, Nucleic Aciden_US
dc.subject.meshStiff-Person Syndrome - Diagnosis - Drug Therapy - Geneticsen_US
dc.subject.meshTreatment Outcomeen_US
dc.titleNovel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia [2]en_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.2005.09.018en_US
dc.identifier.pmid16236274-
dc.identifier.scopuseid_2-s2.0-31044453711en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-31044453711&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume364en_US
dc.identifier.issue1-2en_US
dc.identifier.spage361en_US
dc.identifier.epage362en_US
dc.identifier.isiWOS:000235376800049-
dc.publisher.placeNetherlandsen_US
dc.identifier.issnl0009-8981-

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