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  4. Τμήμα Ιατρικής
  5. Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά) - ΙΑΤ
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Please use this identifier to cite or link to this item: https://olympias.lib.uoi.gr/jspui/handle/123456789/23177
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dc.contributor.authorMiltiadous, G.en
dc.contributor.authorElisaf, M. S.en
dc.contributor.authorBairaktari, H.en
dc.contributor.authorXenophontos, S. L.en
dc.contributor.authorManoli, P.en
dc.contributor.authorCariolou, M. A.en
dc.date.accessioned2015-11-24T19:30:52Z-
dc.date.available2015-11-24T19:30:52Z-
dc.identifier.issn1098-1004-
dc.identifier.urihttps://olympias.lib.uoi.gr/jspui/handle/123456789/23177-
dc.rightsDefault Licence-
dc.subjectAdolescenten
dc.subjectAdulten
dc.subjectCardiovascular Diseases/blood/complications/epidemiology/geneticsen
dc.subjectChilden
dc.subjectCholesterol/blooden
dc.subjectDNA Mutational Analysisen
dc.subjectExons/geneticsen
dc.subjectFemaleen
dc.subjectFounder Effecten
dc.subjectGene Frequencyen
dc.subject*Genetic Testingen
dc.subjectGenotypeen
dc.subjectGreece/epidemiologyen
dc.subjectHumansen
dc.subjectHyperlipoproteinemia Type II/blood/complications/epidemiology/*geneticsen
dc.subjectMaleen
dc.subjectMiddle Ageden
dc.subjectMutation/*geneticsen
dc.subjectMutation, Missense/geneticsen
dc.subjectReceptors, LDL/*geneticsen
dc.titleCharacterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greeceen
heal.typejournalArticle-
heal.type.enJournal articleen
heal.type.elΆρθρο Περιοδικούel
heal.identifier.primary10.1002/humu.1121-
heal.identifier.secondaryhttp://www.ncbi.nlm.nih.gov/pubmed/11317361-
heal.identifier.secondaryhttp://onlinelibrary.wiley.com/store/10.1002/humu.1121/asset/1121_ftp.pdf?v=1&t=h0m8wk9s&s=c1f58906d65882e87c1a9e8c49b129efffde21d9-
heal.languageen-
heal.accesscampus-
heal.recordProviderΠανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικήςel
heal.publicationDate2001-
heal.abstractFamilial Hypercholesterolaemia (FH) is a clinical syndrome characterised by elevated serum total cholesterol levels due to an increase in low density lipoprotein (LDL) cholesterol, by tendon xanthomata and clinical manifestations of ischaemic heart disease in early life. Typically, it results from mutations in the low-density lipoprotein receptor (LDLR) gene. So far, over 600 mutations have been reported for the LDLR gene and account for FH. The nature of LDLR gene mutations is different in various ethnicities and has also regional distribution within each ethnicity. Eleven mutations have already been described in the Greek population. This report describes seven LDLR gene mutations accounting for FH in Northwestern Greece (81T>G, 517T>C, 858C>A, 1285G>A, 1352T>C, 1646G>A and 1775G>A) and their geographic distribution. We have recently described one of these mutations (1352T>C) as a novel point mutation in a Greek family originating from Northwestern Greece. Furthermore, two previously identified mutations (81T>C, 1775G>A) were also detected in the Greek FH patients for the first time. The 1775G>A mutation was responsible for all the homozygous patients in our area, indicating a founder effect. These data will favor the development of tailed information and screening programs in Northwestern Greece for the primary prevention of cardiovascular disease in FH patients.en
heal.journalNameHum Mutaten
heal.journalTypepeer-reviewed-
heal.fullTextAvailabilityTRUE-
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