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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
2012 Impact Factor: 2.85
2012 SCImago Journal Rankings: 0.795
 
DOIhttp://dx.doi.org/10.1016/j.cca.2006.09.004
 
ISI Accession Number IDWOS:000243585300044
 
ReferencesReferences in Scopus
 
DC FieldValue
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
2012 Impact Factor: 2.85
2012 SCImago Journal Rankings: 0.795
 
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
 
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Author Affiliations
  1. Prince of Wales Hospital Hong Kong
  2. Tsan Yuk Hospital