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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
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
2023 Impact Factor: 7.5
2023 SCImago Journal Rankings: 0.997
ISI Accession Number ID
References

 

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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