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Article: 1DNA-based subtyping of glycogen storage disease type III: Mutation and haplotype analysis of the AGL gene in Chinese

Title1DNA-based subtyping of glycogen storage disease type III: Mutation and haplotype analysis of the AGL gene in Chinese
Authors
KeywordsGlycogen Debranching Enzyme
Glycogen Storage Disease Type Iii
Issue Date2004
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgme
Citation
Molecular Genetics And Metabolism, 2004, v. 83 n. 3, p. 271-275 How to Cite?
Abstract
Glycogen storage disease type III (GSD III) is an inborn error of glycogen metabolism caused by a deficiency of glycogen debranching enzyme (AGL). Here, we investigate two unrelated Hong Kong Chinese GSD III patients and identify a novel 5-base pair deletional mutation, 2715_2719delTCAGAin exon 22, in one patient and a nonsense mutation, 1222C>T (R408X) in exon 11, in another patient. Since GSD IIIb is only caused by mutation in exon 3 of the AGL gene, we diagnose our patients to have GSD IIIa, which is consistent with the clinical diagnosis. Until now, R408X has only been reported in Faroe Islands GSDIII patients and was thought to demonstrate a founder effect. In this study, haplotyping of the disease-bearing chromosomes in the AGL locus by 19 intragenic single nucleotide polymorphisms shows that R408X is linked with IVS16+8T and IVS23-21T in our patient while R408X is linked with IVS16+8C and IVS23-21A in the Faroe Islands. The different haplotypes of R408X in Chinese and Faroese indicated that R408X is a recurrent mutation. © 2004 Elsevier Inc. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/148659
ISSN
2013 Impact Factor: 2.827
ISI Accession Number ID
References

 

Author Affiliations
  1. Kwong Wah Hospital
  2. Tuen Mun Hospital
  3. Prince of Wales Hospital Hong Kong
DC FieldValueLanguage
dc.contributor.authorLam, CWen_US
dc.contributor.authorLee, ATCen_US
dc.contributor.authorLam, YYen_US
dc.contributor.authorWong, TWen_US
dc.contributor.authorMak, TWLen_US
dc.contributor.authorFung, WCen_US
dc.contributor.authorChan, KCen_US
dc.contributor.authorHo, CSen_US
dc.contributor.authorTong, SFen_US
dc.date.accessioned2012-05-29T06:14:27Z-
dc.date.available2012-05-29T06:14:27Z-
dc.date.issued2004en_US
dc.identifier.citationMolecular Genetics And Metabolism, 2004, v. 83 n. 3, p. 271-275en_US
dc.identifier.issn1096-7192en_US
dc.identifier.urihttp://hdl.handle.net/10722/148659-
dc.description.abstractGlycogen storage disease type III (GSD III) is an inborn error of glycogen metabolism caused by a deficiency of glycogen debranching enzyme (AGL). Here, we investigate two unrelated Hong Kong Chinese GSD III patients and identify a novel 5-base pair deletional mutation, 2715_2719delTCAGAin exon 22, in one patient and a nonsense mutation, 1222C>T (R408X) in exon 11, in another patient. Since GSD IIIb is only caused by mutation in exon 3 of the AGL gene, we diagnose our patients to have GSD IIIa, which is consistent with the clinical diagnosis. Until now, R408X has only been reported in Faroe Islands GSDIII patients and was thought to demonstrate a founder effect. In this study, haplotyping of the disease-bearing chromosomes in the AGL locus by 19 intragenic single nucleotide polymorphisms shows that R408X is linked with IVS16+8T and IVS23-21T in our patient while R408X is linked with IVS16+8C and IVS23-21A in the Faroe Islands. The different haplotypes of R408X in Chinese and Faroese indicated that R408X is a recurrent mutation. © 2004 Elsevier Inc. All rights reserved.en_US
dc.languageengen_US
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgmeen_US
dc.relation.ispartofMolecular Genetics and Metabolismen_US
dc.subjectGlycogen Debranching Enzymeen_US
dc.subjectGlycogen Storage Disease Type Iiien_US
dc.title1DNA-based subtyping of glycogen storage disease type III: Mutation and haplotype analysis of the AGL gene in Chineseen_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.ymgme.2004.07.017en_US
dc.identifier.pmid15542399-
dc.identifier.scopuseid_2-s2.0-8144224418en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-8144224418&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume83en_US
dc.identifier.issue3en_US
dc.identifier.spage271en_US
dc.identifier.epage275en_US
dc.identifier.isiWOS:000225496300010-
dc.publisher.placeUnited Statesen_US

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