Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree
| dc.contributor.author | Miltiadous, G. | en |
| dc.contributor.author | Elisaf, M. S. | en |
| dc.contributor.author | Xenophontos, S. | en |
| dc.contributor.author | Manoli, P. | en |
| dc.contributor.author | Cariolou, M. A. | en |
| dc.date.accessioned | 2015-11-24T18:52:41Z | |
| dc.date.available | 2015-11-24T18:52:41Z | |
| dc.identifier.issn | 1098-1004 | - |
| dc.identifier.uri | https://olympias.lib.uoi.gr/jspui/handle/123456789/18426 | |
| dc.rights | Default Licence | - |
| dc.subject | Amino Acid Substitution/*genetics | en |
| dc.subject | Chromosome Segregation/*genetics | en |
| dc.subject | Greece/epidemiology | en |
| dc.subject | Humans | en |
| dc.subject | Hyperlipoproteinemia Type II/*genetics | en |
| dc.subject | Isoleucine/diagnostic use/*genetics | en |
| dc.subject | Mutation/*genetics | en |
| dc.subject | Pedigree | en |
| dc.subject | Receptors, LDL/*genetics | en |
| dc.subject | Threonine/diagnostic use/*genetics | en |
| dc.title | Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree | en |
| heal.access | campus | - |
| heal.fullTextAvailability | TRUE | - |
| heal.identifier.primary | 10.1002/1098-1004(200009)16:3<277::AID-HUMU24>3.0.CO;2-Y | - |
| heal.identifier.secondary | http://www.ncbi.nlm.nih.gov/pubmed/10980548 | - |
| heal.identifier.secondary | http://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.journalName | Hum Mutat | en |
| heal.journalType | peer-reviewed | - |
| heal.language | en | - |
| heal.publicationDate | 2000 | - |
| heal.recordProvider | Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής | el |
| heal.type | journalArticle | - |
| heal.type.el | Άρθρο Περιοδικού | el |
| heal.type.en | Journal article | en |
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