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

Miltiadous, G./ Elisaf, M. S./ Xenophontos, S./ Manoli, P./ Cariolou, M. A.


Institution and School/Department of submitter: Πανεπιστήμιο Ιωαννίνων. Σχολή Επιστημών Υγείας. Τμήμα Ιατρικής
Keywords: Amino Acid Substitution/*genetics,Chromosome Segregation/*genetics,Greece/epidemiology,Humans,Hyperlipoproteinemia Type II/*genetics,Isoleucine/diagnostic use/*genetics,Mutation/*genetics,Pedigree,Receptors, LDL/*genetics,Threonine/diagnostic use/*genetics
URI: http://olympias.lib.uoi.gr/jspui/handle/123456789/18426
ISSN: 1098-1004
Link: http://www.ncbi.nlm.nih.gov/pubmed/10980548
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
Appears in Collections:Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά)

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