Article: DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: A chance of 1 in 7.6 trillion

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TitleDNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: A chance of 1 in 7.6 trillion
AuthorsLam, CW1
Yan, MSC1
Li, CK1
Lau, KC1
Tong, SF1
Tang, HY2
Issue Date2007
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
CitationClinica Chimica Acta, 2007, v. 376 n. 1-2, p. 250-252 [How to Cite?]
DOI: http://dx.doi.org/10.1016/j.cca.2006.09.004
ISSN0009-8981
2011 Impact Factor: 2.535
2011 SCImago Journal Rankings: 0.189
DOIhttp://dx.doi.org/10.1016/j.cca.2006.09.004
ISI Accession Number IDWOS:000243585300044
ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorLam, CW
dc.contributor.authorYan, MSC
dc.contributor.authorLi, CK
dc.contributor.authorLau, KC
dc.contributor.authorTong, SF
dc.contributor.authorTang, HY
dc.date.accessioned2012-05-29T06:13:17Z
dc.date.available2012-05-29T06:13:17Z
dc.date.issued2007
dc.description.natureLink_to_subscribed_fulltext
dc.identifier.citationClinica Chimica Acta, 2007, v. 376 n. 1-2, p. 250-252 [How to Cite?]
DOI: http://dx.doi.org/10.1016/j.cca.2006.09.004
dc.identifier.doihttp://dx.doi.org/10.1016/j.cca.2006.09.004
dc.identifier.epage252
dc.identifier.isiWOS:000243585300044
dc.identifier.issn0009-8981
2011 Impact Factor: 2.535
2011 SCImago Journal Rankings: 0.189
dc.identifier.issue1-2
dc.identifier.pmid17034777
dc.identifier.scopuseid_2-s2.0-33845322647
dc.identifier.spage250
dc.identifier.urihttp://hdl.handle.net/10722/148493
dc.identifier.volume376
dc.languageeng
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
dc.publisher.placeNetherlands
dc.relation.ispartofClinica Chimica Acta
dc.relation.referencesReferences in Scopus
dc.subject.meshAsian Continental Ancestry Group
dc.subject.meshBase Sequence
dc.subject.meshDna - Genetics
dc.subject.meshDna Mutational Analysis
dc.subject.meshHumans
dc.subject.meshMolecular Sequence Data
dc.subject.meshMucolipidoses - Diagnosis
dc.subject.meshMucopolysaccharidosis Vi - Diagnosis
dc.subject.meshPedigree
dc.subject.meshRare Diseases - Diagnosis - Genetics
dc.titleDNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: A chance of 1 in 7.6 trillion
dc.typeArticle
Author Affiliations
  1. Prince of Wales Hospital Hong Kong
  2. Tsan Yuk Hospital