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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
Lam, CWChan, KYTong, SFChan, BYChan, YTChan, YW
Issue Date2000
Citation
Human Mutation, 2000, v. 16 n. 1, p. 94 How to Cite?
Persistent Identifierhttp://hdl.handle.net/10722/148205
ISSN
1098-1004
2023 Impact Factor: 3.3
2023 SCImago Journal Rankings: 1.686

 

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
dc.identifier.issnl1059-7794-

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