Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree

dc.contributor.authorMiltiadous, G.en
dc.contributor.authorElisaf, M. S.en
dc.contributor.authorXenophontos, S.en
dc.contributor.authorManoli, P.en
dc.contributor.authorCariolou, M. A.en
dc.date.accessioned2015-11-24T18:52:41Z
dc.date.available2015-11-24T18:52:41Z
dc.identifier.issn1098-1004-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/18426
dc.rightsDefault Licence-
dc.subjectAmino Acid Substitution/*geneticsen
dc.subjectChromosome Segregation/*geneticsen
dc.subjectGreece/epidemiologyen
dc.subjectHumansen
dc.subjectHyperlipoproteinemia Type II/*geneticsen
dc.subjectIsoleucine/diagnostic use/*geneticsen
dc.subjectMutation/*geneticsen
dc.subjectPedigreeen
dc.subjectReceptors, LDL/*geneticsen
dc.subjectThreonine/diagnostic use/*geneticsen
dc.titleSegregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigreeen
heal.accesscampus-
heal.fullTextAvailabilityTRUE-
heal.identifier.primary10.1002/1098-1004(200009)16:3<277::AID-HUMU24>3.0.CO;2-Y-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/10980548-
heal.identifier.secondaryhttp://onlinelibrary.wiley.com/store/10.1002/1098-1004(200009)16:3<277::AID-HUMU24>3.0.CO;2-Y/asset/24_ftp.pdf?v=1&t=h0m8woji&s=56e99ccb4f4018ab47a7973d1b24a960cfa8a6cc-
heal.journalNameHum Mutaten
heal.journalTypepeer-reviewed-
heal.languageen-
heal.publicationDate2000-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.typejournalArticle-
heal.type.elΆρθρο Περιοδικούel
heal.type.enJournal articleen

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