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Compound heterozygosity of novel missense mutations (Ser(45) -> Gly, CYS278 -> Arg) in the lipoprotein lipase gene in a newborn Korean infant

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dc.contributor.authorLee, JangHoon-
dc.contributor.authorKo, KwangMin-
dc.contributor.authorLee, JungHwa-
dc.contributor.authorLee, KwangChul-
dc.contributor.authorSon, ChangSung-
dc.contributor.authorLee, JooWon-
dc.contributor.authorRyu, SookWon-
dc.date.accessioned2021-09-09T13:03:20Z-
dc.date.available2021-09-09T13:03:20Z-
dc.date.created2021-06-15-
dc.date.issued2008-01-
dc.identifier.issn0009-8981-
dc.identifier.urihttps://scholar.korea.ac.kr/handle/2021.sw.korea/124524-
dc.languageEnglish-
dc.language.isoen-
dc.publisherELSEVIER SCIENCE BV-
dc.subjectN-LINKED GLYCOSYLATION-
dc.subjectLPL GENE-
dc.subjectDEFICIENCY-
dc.subjectHYPERTRIGLYCERIDEMIA-
dc.subjectEXPRESSION-
dc.subjectSECRETION-
dc.titleCompound heterozygosity of novel missense mutations (Ser(45) -> Gly, CYS278 -> Arg) in the lipoprotein lipase gene in a newborn Korean infant-
dc.typeArticle-
dc.contributor.affiliatedAuthorLee, JungHwa-
dc.identifier.doi10.1016/j.cca.2007.08.007-
dc.identifier.scopusid2-s2.0-35748978850-
dc.identifier.wosid000251475900032-
dc.identifier.bibliographicCitationCLINICA CHIMICA ACTA, v.387, no.1-2, pp.172 - 174-
dc.relation.isPartOfCLINICA CHIMICA ACTA-
dc.citation.titleCLINICA CHIMICA ACTA-
dc.citation.volume387-
dc.citation.number1-2-
dc.citation.startPage172-
dc.citation.endPage174-
dc.type.rimsART-
dc.type.docTypeLetter-
dc.description.journalClass1-
dc.description.journalRegisteredClassscie-
dc.description.journalRegisteredClassscopus-
dc.relation.journalResearchAreaMedical Laboratory Technology-
dc.relation.journalWebOfScienceCategoryMedical Laboratory Technology-
dc.subject.keywordPlusN-LINKED GLYCOSYLATION-
dc.subject.keywordPlusLPL GENE-
dc.subject.keywordPlusDEFICIENCY-
dc.subject.keywordPlusHYPERTRIGLYCERIDEMIA-
dc.subject.keywordPlusEXPRESSION-
dc.subject.keywordPlusSECRETION-
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