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Article: Clinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy

TitleClinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy
Authors
Law, CYChang, TCho, SYYau, EKNg, GSFong, NCLam, CW
KeywordsClinical whole-exome sequencing
Early infantile epileptic encephalopathy
GNAO1
Issue Date2015
Citation
Clinica Chimica Acta, 2015, v. 451, p. 292-296 How to Cite?
DOI: http://dx.doi.org/10.1016/j.cca.2015.10.011
Persistent Identifierhttp://hdl.handle.net/10722/232158
ISI Accession Number ID
WOS:000366236900032

 

DC FieldValueLanguage
dc.contributor.authorLaw, CY-
dc.contributor.authorChang, T-
dc.contributor.authorCho, SY-
dc.contributor.authorYau, EK-
dc.contributor.authorNg, GS-
dc.contributor.authorFong, NC-
dc.contributor.authorLam, CW-
dc.date.accessioned2016-09-20T05:28:07Z-
dc.date.available2016-09-20T05:28:07Z-
dc.date.issued2015-
dc.identifier.citationClinica Chimica Acta, 2015, v. 451, p. 292-296-
dc.identifier.urihttp://hdl.handle.net/10722/232158-
dc.languageeng-
dc.relation.ispartofClinica Chimica Acta-
dc.subjectClinical whole-exome sequencing-
dc.subjectEarly infantile epileptic encephalopathy-
dc.subjectGNAO1-
dc.titleClinical whole-exome sequencing reveals a novel missense pathogenic variant of GNAO1 in a patient with infantile-onset epilepsy-
dc.typeArticle-
dc.identifier.emailLaw, CY: ericlaw@pathology.hku.hk-
dc.identifier.emailChang, T: tzulun@hku.hk-
dc.identifier.emailLam, CW: ching-wanlam@pathology.hku.hk-
dc.identifier.authorityLaw, CY=rp01586-
dc.identifier.authorityLam, CW=rp00260-
dc.identifier.doi10.1016/j.cca.2015.10.011-
dc.identifier.scopuseid_2-s2.0-84952984560-
dc.identifier.hkuros264708-
dc.identifier.volume451-
dc.identifier.spage292-
dc.identifier.epage296-
dc.identifier.isiWOS:000366236900032-

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