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Article: Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene

TitleCerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene
Authors
Mak, CMLam, KSLTan, KCBMa, OCTam, S
KeywordsCerebrotendinous xanthomatosis
CYP27A1
Hong kong Chinese
Normocholesterolemic tendon xanthomas
Novel splicing mutation
Sterol 27-hydroxylase
Issue Date2004
PublisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgme
Citation
Molecular Genetics And Metabolism, 2004, v. 81 n. 2, p. 144-146 How to Cite?
DOI: http://dx.doi.org/10.1016/j.ymgme.2003.11.005
AbstractWe reported a Hong Kong Chinese proband with Cerebrotendinous Xanthomatosis in which a novel acceptor splicing site mutation (IVS6-1G>T) was identified. Family screening revealed the same mutation in his elder brother and the youngest sister. All the three affected siblings were compound heterozygous for IVS6-1G>T and a known missense mutation R372Q (GenBank Accession No. M62401). Significant phenotypic variation was noted among them that the youngest sister was still symptom-free at the time of writing. © 2003 Elsevier Inc. All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/162749
ISSN
1096-7192
2021 Impact Factor: 4.204
2020 SCImago Journal Rankings: 1.329
ISI Accession Number ID
WOS:000188718400012
References
References in Scopus

 

DC FieldValueLanguage
dc.contributor.authorMak, CMen_US
dc.contributor.authorLam, KSLen_US
dc.contributor.authorTan, KCBen_US
dc.contributor.authorMa, OCen_US
dc.contributor.authorTam, Sen_US
dc.date.accessioned2012-09-05T05:23:04Z-
dc.date.available2012-09-05T05:23:04Z-
dc.date.issued2004en_US
dc.identifier.citationMolecular Genetics And Metabolism, 2004, v. 81 n. 2, p. 144-146en_US
dc.identifier.issn1096-7192en_US
dc.identifier.urihttp://hdl.handle.net/10722/162749-
dc.description.abstractWe reported a Hong Kong Chinese proband with Cerebrotendinous Xanthomatosis in which a novel acceptor splicing site mutation (IVS6-1G>T) was identified. Family screening revealed the same mutation in his elder brother and the youngest sister. All the three affected siblings were compound heterozygous for IVS6-1G>T and a known missense mutation R372Q (GenBank Accession No. M62401). Significant phenotypic variation was noted among them that the youngest sister was still symptom-free at the time of writing. © 2003 Elsevier Inc. All rights reserved.en_US
dc.languageengen_US
dc.publisherAcademic Press. The Journal's web site is located at http://www.elsevier.com/locate/ymgmeen_US
dc.relation.ispartofMolecular Genetics and Metabolismen_US
dc.subjectCerebrotendinous xanthomatosis-
dc.subjectCYP27A1-
dc.subjectHong kong Chinese-
dc.subjectNormocholesterolemic tendon xanthomas-
dc.subjectNovel splicing mutation-
dc.subjectSterol 27-hydroxylase-
dc.subject.meshAsian Continental Ancestry Groupen_US
dc.subject.meshCytochrome P-450 Cyp27a1en_US
dc.subject.meshFemaleen_US
dc.subject.meshFrameshift Mutationen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHong Kong - Ethnologyen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshMutation, Missenseen_US
dc.subject.meshPedigreeen_US
dc.subject.meshPolymorphism, Restriction Fragment Lengthen_US
dc.subject.meshRna Splicingen_US
dc.subject.meshSteroid Hydroxylases - Geneticsen_US
dc.subject.meshXanthomatosis, Cerebrotendinous - Geneticsen_US
dc.titleCerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase geneen_US
dc.typeArticleen_US
dc.identifier.emailLam, KSL:ksllam@hku.hken_US
dc.identifier.emailTan, KCB:kcbtan@hku.hken_US
dc.identifier.authorityLam, KSL=rp00343en_US
dc.identifier.authorityTan, KCB=rp00402en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1016/j.ymgme.2003.11.005en_US
dc.identifier.pmid14741198-
dc.identifier.scopuseid_2-s2.0-0347931741en_US
dc.identifier.hkuros91111-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0347931741&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume81en_US
dc.identifier.issue2en_US
dc.identifier.spage144en_US
dc.identifier.epage146en_US
dc.identifier.isiWOS:000188718400012-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridMak, CM=37052378200en_US
dc.identifier.scopusauthoridLam, KSL=8082870600en_US
dc.identifier.scopusauthoridTan, KCB=8082703100en_US
dc.identifier.scopusauthoridMa, OC=7004452841en_US
dc.identifier.scopusauthoridTam, S=7202037323en_US
dc.identifier.issnl1096-7192-

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