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Article: Juvenile-onset glycogen storage disease type II with novel mutations in acid α-glucosidase gene

TitleJuvenile-onset glycogen storage disease type II with novel mutations in acid α-glucosidase gene
Authors
Lam, CWYuen, YPChan, KYTong, SFLai, CKChow, TCLee, KCChan, YWMartiniuk, F
Issue Date2003
PublisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.neurology.org
Citation
Neurology, 2003, v. 60 n. 4, p. 715-717 How to Cite?
DOI: http://dx.doi.org/10.1212/01.WNL.0000048661.95327.BF
AbstractThe authors describe two novel mutations of the acid alpha-glucosidase gene, P361L and R437C, which define the juvenile-onset glycogen storage disease type II (GSDII) in a 16-year-old Chinese patient. The asymptomatic 13-year-old brother of the proband is also a compound heterozygote of the two mutations. These results confirm that intrafamilial phenotypic variation of juvenile-onset GSDII is ethnically diverse and suggest the contribution of other genes to the phenotypic variability of GSDII.
Persistent Identifierhttp://hdl.handle.net/10722/148330
ISSN
0028-3878
2021 Impact Factor: 11.800
2020 SCImago Journal Rankings: 2.910
ISI Accession Number ID
WOS:000182948000035
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorLam, CWen_US
dc.contributor.authorYuen, YPen_US
dc.contributor.authorChan, KYen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorLai, CKen_US
dc.contributor.authorChow, TCen_US
dc.contributor.authorLee, KCen_US
dc.contributor.authorChan, YWen_US
dc.contributor.authorMartiniuk, Fen_US
dc.date.accessioned2012-05-29T06:12:16Z-
dc.date.available2012-05-29T06:12:16Z-
dc.date.issued2003en_US
dc.identifier.citationNeurology, 2003, v. 60 n. 4, p. 715-717en_US
dc.identifier.issn0028-3878en_US
dc.identifier.urihttp://hdl.handle.net/10722/148330-
dc.description.abstractThe authors describe two novel mutations of the acid alpha-glucosidase gene, P361L and R437C, which define the juvenile-onset glycogen storage disease type II (GSDII) in a 16-year-old Chinese patient. The asymptomatic 13-year-old brother of the proband is also a compound heterozygote of the two mutations. These results confirm that intrafamilial phenotypic variation of juvenile-onset GSDII is ethnically diverse and suggest the contribution of other genes to the phenotypic variability of GSDII.en_US
dc.languageengen_US
dc.publisherLippincott Williams & Wilkins. The Journal's web site is located at http://www.neurology.orgen_US
dc.relation.ispartofNeurologyen_US
dc.subject.meshAdolescenten_US
dc.subject.meshAmino Acid Substitutionen_US
dc.subject.meshAsian Continental Ancestry Group - Geneticsen_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshEnzyme Activation - Geneticsen_US
dc.subject.meshGlycogen Storage Disease Type Ii - Diagnosis - Geneticsen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMutation, Missense - Geneticsen_US
dc.subject.meshPenetranceen_US
dc.subject.meshSiblingsen_US
dc.subject.meshAlpha-Glucosidases - Genetics - Metabolismen_US
dc.titleJuvenile-onset glycogen storage disease type II with novel mutations in acid α-glucosidase geneen_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.doi10.1212/01.WNL.0000048661.95327.BF-
dc.identifier.pmid12601120-
dc.identifier.scopuseid_2-s2.0-0037465531en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0037465531&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume60en_US
dc.identifier.issue4en_US
dc.identifier.spage715en_US
dc.identifier.epage717en_US
dc.identifier.isiWOS:000182948000035-
dc.publisher.placeUnited Statesen_US
dc.identifier.issnl0028-3878-

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