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Article: A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.

TitleA novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.
Authors
Issue Date2000
Citation
Human Mutation, 2000, v. 16 n. 1, p. 94 How to Cite?
Persistent Identifierhttp://hdl.handle.net/10722/148205
ISSN
2015 SCImago Journal Rankings: 3.670

 

DC FieldValueLanguage
dc.contributor.authorLam, CWen_US
dc.contributor.authorChan, KYen_US
dc.contributor.authorTong, SFen_US
dc.contributor.authorChan, BYen_US
dc.contributor.authorChan, YTen_US
dc.contributor.authorChan, YWen_US
dc.date.accessioned2012-05-29T06:11:29Z-
dc.date.available2012-05-29T06:11:29Z-
dc.date.issued2000en_US
dc.identifier.citationHuman Mutation, 2000, v. 16 n. 1, p. 94en_US
dc.identifier.issn1098-1004en_US
dc.identifier.urihttp://hdl.handle.net/10722/148205-
dc.languageengen_US
dc.relation.ispartofHuman mutationen_US
dc.subject.meshAmino Acid Substitution - Geneticsen_US
dc.subject.meshAntiportersen_US
dc.subject.meshGlycogen Storage Disease Type I - Enzymology - Geneticsen_US
dc.subject.meshHong Kongen_US
dc.subject.meshHumansen_US
dc.subject.meshLeucine - Geneticsen_US
dc.subject.meshMonosaccharide Transport Proteinsen_US
dc.subject.meshMutation, Missense - Geneticsen_US
dc.subject.meshPhosphotransferases - Geneticsen_US
dc.subject.meshProline - Geneticsen_US
dc.titleA novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.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.pmid10874322-
dc.identifier.scopuseid_2-s2.0-0034220543en_US
dc.identifier.volume16en_US
dc.identifier.issue1en_US
dc.identifier.spage94en_US

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