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- Publisher Website: 10.1016/j.cca.2006.09.004
- Scopus: eid_2-s2.0-33845322647
- PMID: 17034777
- WOS: WOS:000243585300044
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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
Title | 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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Authors | |
Issue Date | 2007 |
Publisher | Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca |
Citation | Clinica Chimica Acta, 2007, v. 376 n. 1-2, p. 250-252 How to Cite? |
Persistent Identifier | http://hdl.handle.net/10722/148493 |
ISSN | 2023 Impact Factor: 3.2 2023 SCImago Journal Rankings: 1.016 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Lam, CW | en_US |
dc.contributor.author | Yan, MSC | en_US |
dc.contributor.author | Li, CK | en_US |
dc.contributor.author | Lau, KC | en_US |
dc.contributor.author | Tong, SF | en_US |
dc.contributor.author | Tang, HY | en_US |
dc.date.accessioned | 2012-05-29T06:13:17Z | - |
dc.date.available | 2012-05-29T06:13:17Z | - |
dc.date.issued | 2007 | en_US |
dc.identifier.citation | Clinica Chimica Acta, 2007, v. 376 n. 1-2, p. 250-252 | en_US |
dc.identifier.issn | 0009-8981 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/148493 | - |
dc.language | eng | en_US |
dc.publisher | Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca | en_US |
dc.relation.ispartof | Clinica Chimica Acta | en_US |
dc.subject.mesh | Asian Continental Ancestry Group | en_US |
dc.subject.mesh | Base Sequence | en_US |
dc.subject.mesh | Dna - Genetics | en_US |
dc.subject.mesh | Dna Mutational Analysis | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Molecular Sequence Data | en_US |
dc.subject.mesh | Mucolipidoses - Diagnosis | en_US |
dc.subject.mesh | Mucopolysaccharidosis Vi - Diagnosis | en_US |
dc.subject.mesh | Pedigree | en_US |
dc.subject.mesh | Rare Diseases - Diagnosis - Genetics | en_US |
dc.title | DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: A chance of 1 in 7.6 trillion | en_US |
dc.type | Article | en_US |
dc.identifier.email | Lam, CW:ching-wanlam@pathology.hku.hk | en_US |
dc.identifier.authority | Lam, CW=rp00260 | en_US |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.doi | 10.1016/j.cca.2006.09.004 | en_US |
dc.identifier.pmid | 17034777 | en_US |
dc.identifier.scopus | eid_2-s2.0-33845322647 | en_US |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-33845322647&selection=ref&src=s&origin=recordpage | en_US |
dc.identifier.volume | 376 | en_US |
dc.identifier.issue | 1-2 | en_US |
dc.identifier.spage | 250 | en_US |
dc.identifier.epage | 252 | en_US |
dc.identifier.isi | WOS:000243585300044 | - |
dc.publisher.place | Netherlands | en_US |
dc.identifier.issnl | 0009-8981 | - |