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
ISSN: 1098-1004
Appears in Collections:Άρθρα σε επιστημονικά περιοδικά ( Ανοικτά)

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