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Article: Novel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b

TitleNovel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1b
Authors
KeywordsG6pt1
Glycogen Storage Disease Type 1B
Gsd 1B
Mutation
Issue Date2002
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgme
Citation
Molecular Genetics And Metabolism, 2002, v. 77 n. 3, p. 249-251 How to Cite?
AbstractWe describe a Chinese patient with glycogen storage disease type 1b presenting with failure to thrive and protuberant abdomen. The neutropenia was mild and the patient did not have fasting hypoglycemia. Direct DNA sequencing of the G6PT1 gene revealed the patient to be a compound heterozygote of a novel missense mutation, Y24H, and another missense mutation, P191L, which we had described previously. The mother is heterozygous for the Y24H mutation and the father is heterozygous for the P191L mutation. Y24H and P191L may be ethnic-specific mutations as they have not been reported in other populations. The DNA-based diagnosis of GSD 1b will enable us to make an accurate determination of carrier status and to perform prenatal diagnosis of this disease. © 2002 Elsevier Science (USA). All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/148286
ISSN
2015 Impact Factor: 3.093
2015 SCImago Journal Rankings: 1.520
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorYuen, YPen_US
dc.contributor.authorCheng, WFen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorChan, YTen_US
dc.contributor.authorChan, YWen_US
dc.contributor.authorLam, CWen_US
dc.date.accessioned2012-05-29T06:12:00Z-
dc.date.available2012-05-29T06:12:00Z-
dc.date.issued2002en_US
dc.identifier.citationMolecular Genetics And Metabolism, 2002, v. 77 n. 3, p. 249-251en_US
dc.identifier.issn1096-7192en_US
dc.identifier.urihttp://hdl.handle.net/10722/148286-
dc.description.abstractWe describe a Chinese patient with glycogen storage disease type 1b presenting with failure to thrive and protuberant abdomen. The neutropenia was mild and the patient did not have fasting hypoglycemia. Direct DNA sequencing of the G6PT1 gene revealed the patient to be a compound heterozygote of a novel missense mutation, Y24H, and another missense mutation, P191L, which we had described previously. The mother is heterozygous for the Y24H mutation and the father is heterozygous for the P191L mutation. Y24H and P191L may be ethnic-specific mutations as they have not been reported in other populations. The DNA-based diagnosis of GSD 1b will enable us to make an accurate determination of carrier status and to perform prenatal diagnosis of this disease. © 2002 Elsevier Science (USA). 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.subjectG6pt1en_US
dc.subjectGlycogen Storage Disease Type 1Ben_US
dc.subjectGsd 1Ben_US
dc.subjectMutationen_US
dc.titleNovel missense mutation (Y24H) in the G6PT1 gene causing glycogen storage disease type 1ben_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/S1096-7192(02)00110-5en_US
dc.identifier.scopuseid_2-s2.0-0036431338en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0036431338&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume77en_US
dc.identifier.issue3en_US
dc.identifier.spage249en_US
dc.identifier.epage251en_US
dc.identifier.isiWOS:000179233300008-
dc.publisher.placeUnited Statesen_US

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