A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation.
Mavroidis
N
N
First Department of Pediatrics, University of Athens, St. Sophia's Children's Hospital, Greece.
Traeger-Synodinos
J
J
Kanavakis
E
E
Drogari
E
E
Matsaniotis
N
N
Humphries
S E
SE
Day
I N
IN
Kattamis
C
C
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*
D003062:Codon; D011973:Receptors, LDL; D004247:DNA