title: A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation.
authors.affiliation: First Department of Pediatrics, University of Athens, St. Sophia's Children's Hospital, Greece.
authors.forename: N
authors.initials: N
authors.lastname: Mavroidis
authors.forename: J
authors.initials: J
authors.lastname: Traeger-Synodinos
authors.forename: E
authors.initials: E
authors.lastname: Kanavakis
authors.forename: E
authors.initials: E
authors.lastname: Drogari
authors.forename: N
authors.initials: N
authors.lastname: Matsaniotis
authors.forename: S E
authors.initials: SE
authors.lastname: Humphries
authors.forename: I N
authors.initials: IN
authors.lastname: Day
authors.forename: C
authors.initials: C
authors.lastname: Kattamis
mesh_terms: D000293:Adolescent; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D003062:Codon; D004247:DNA / Q000032:analysis; D005091:Exons; D006115:Greece / Q000453:epidemiology; D006239:Haplotypes; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000208:ethnology / Q000235:genetics*; D015994:Incidence; D007223:Infant; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011973:Receptors, LDL / Q000235:genetics*
chemical_list: D003062:Codon; D011973:Receptors, LDL; D004247:DNA