title: Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree.
authors.affiliation: Molecular Genetics Department B & DNA Identification Laboratory, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, Greece.
authors.forename: G
authors.initials: G
authors.lastname: Miltiadous
authors.forename: M
authors.initials: M
authors.lastname: Elisaf
authors.forename: S
authors.initials: S
authors.lastname: Xenophontos
authors.forename: P
authors.initials: P
authors.lastname: Manoli
authors.forename: M A
authors.initials: MA
authors.lastname: Cariolou
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D020090:Chromosome Segregation / Q000235:genetics*; D006115:Greece / Q000453:epidemiology; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D007532:Isoleucine / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011973:Receptors, LDL / Q000235:genetics*; D013912:Threonine / Q000235:genetics*
chemical_list: D011973:Receptors, LDL; D007532:Isoleucine; D013912:Threonine