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Article: Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome.

TitleNovel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome.
Authors
Sham, MHLui, VCChen, BLFu, MTam, PK
Issue Date2001
PublisherB M J Publishing Group. The Journal's web site is located at http://jmg.bmjjournals.com/
Citation
Journal Of Medical Genetics, 2001, v. 38 n. 9, p. E30 How to Cite?
DOI: http://dx.doi.org/10.1136/jmg.38.9.e30
Persistent Identifierhttp://hdl.handle.net/10722/42615
ISSN
1468-6244
2023 Impact Factor: 3.5
2023 SCImago Journal Rankings: 1.690
PubMed Central ID
PMC1734934
ISI Accession Number ID
WOS:000208471600003

 

DC FieldValueLanguage
dc.contributor.authorSham, MHen_HK
dc.contributor.authorLui, VCen_HK
dc.contributor.authorChen, BLen_HK
dc.contributor.authorFu, Men_HK
dc.contributor.authorTam, PKen_HK
dc.date.accessioned2007-03-23T04:27:54Z-
dc.date.available2007-03-23T04:27:54Z-
dc.date.issued2001en_HK
dc.identifier.citationJournal Of Medical Genetics, 2001, v. 38 n. 9, p. E30en_HK
dc.identifier.issn1468-6244en_HK
dc.identifier.urihttp://hdl.handle.net/10722/42615-
dc.format.extent346114 bytes-
dc.format.extent26112 bytes-
dc.format.extent145392 bytes-
dc.format.extent2454 bytes-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypeapplication/msword-
dc.format.mimetypeapplication/pdf-
dc.format.mimetypetext/plain-
dc.languageengen_HK
dc.publisherB M J Publishing Group. The Journal's web site is located at http://jmg.bmjjournals.com/en_HK
dc.relation.ispartofJournal of medical geneticsen_HK
dc.rightsJournal of Medical Genetics. Copyright © B M J Publishing Group.en_HK
dc.subject.meshDna mutational analysisen_HK
dc.subject.meshGenes, dominant - geneticsen_HK
dc.subject.meshInfant, newbornen_HK
dc.subject.meshHigh mobility group proteins - chemistry - geneticsen_HK
dc.subject.meshPhenotypeen_HK
dc.titleNovel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome.en_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0022-2593&volume=38&issue=9&spage=e30:1&epage=5&date=2001&atitle=Novel+mutations+of+SOX10+suggest+a+dominant+negative+role+in+Waardenburg-Shah+syndromeen_HK
dc.identifier.emailSham, MH: mhsham@hkucc.hku.hken_HK
dc.identifier.emailLui, VC: vchlui@hkucc.hku.hken_HK
dc.identifier.emailTam, PK: paultam@hkucc.hku.hken_HK
dc.identifier.authoritySham, MH=rp00380en_HK
dc.identifier.authorityLui, VC=rp00363en_HK
dc.identifier.authorityTam, PK=rp00060en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.doi10.1136/jmg.38.9.e30en_HK
dc.identifier.pmid11546831-
dc.identifier.pmcidPMC1734934-
dc.identifier.scopuseid_2-s2.0-19244374248en_HK
dc.identifier.hkuros63596-
dc.identifier.volume38en_HK
dc.identifier.issue9en_HK
dc.identifier.spageE30en_HK
dc.identifier.epageE30en_HK
dc.identifier.isiWOS:000208471600003-
dc.identifier.scopusauthoridSham, MH=7003729109en_HK
dc.identifier.scopusauthoridLui, VC=7004231344en_HK
dc.identifier.scopusauthoridChen, BL=7408607939en_HK
dc.identifier.scopusauthoridFu, M=49761323800en_HK
dc.identifier.scopusauthoridTam, PK=7202539421en_HK
dc.identifier.issnl0022-2593-

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