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Article: A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI

TitleA novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI
Authors
Lam, CWChan, AOKLai, CKChan, WHChan, YWShek, CCTong, SF
KeywordsARSB gene
Mucopolysaccharidosis
Mutation analysis
Issue Date2004
PublisherChinese Medical Association. The Journal's web site is located at http://www.cmj.org/
Citation
Chinese Medical Journal, 2004, v. 117 n. 12, p. 1850-1852 How to Cite?
Persistent Identifierhttp://hdl.handle.net/10722/148380
ISSN
0366-6999
2023 Impact Factor: 7.5
2023 SCImago Journal Rankings: 0.997
ISI Accession Number ID
WOS:000226110800018
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorLam, CWen_US
dc.contributor.authorChan, AOKen_US
dc.contributor.authorLai, CKen_US
dc.contributor.authorChan, WHen_US
dc.contributor.authorChan, YWen_US
dc.contributor.authorShek, CCen_US
dc.contributor.authorTong, SFen_US
dc.date.accessioned2012-05-29T06:12:36Z-
dc.date.available2012-05-29T06:12:36Z-
dc.date.issued2004en_US
dc.identifier.citationChinese Medical Journal, 2004, v. 117 n. 12, p. 1850-1852en_US
dc.identifier.issn0366-6999en_US
dc.identifier.urihttp://hdl.handle.net/10722/148380-
dc.languageengen_US
dc.publisherChinese Medical Association. The Journal's web site is located at http://www.cmj.org/en_US
dc.relation.ispartofChinese Medical Journalen_US
dc.subjectARSB gene-
dc.subjectMucopolysaccharidosis-
dc.subjectMutation analysis-
dc.subject.meshChilden_US
dc.subject.meshFemaleen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMucopolysaccharidosis Iv - Geneticsen_US
dc.subject.meshMutationen_US
dc.subject.meshN-Acetylgalactosamine-4-Sulfatase - Geneticsen_US
dc.titleA novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VIen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_OA_fulltexten_US
dc.identifier.pmid15603718en_US
dc.identifier.scopuseid_2-s2.0-11344271245en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-11344271245&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume117en_US
dc.identifier.issue12en_US
dc.identifier.spage1850en_US
dc.identifier.epage1852en_US
dc.identifier.isiWOS:000226110800018-
dc.publisher.placeChinaen_US
dc.identifier.issnl0366-6999-

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