Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians.
Laboratory of Molecular Endocrinology, CHUL Research Center, Québec, Canada.
J
J
Simard
S
S
Moorjani
M C
MC
Vohl
P
P
Couture
A L
AL
Torres
C
C
Gagné
J P
JP
Després
F
F
Labrie
P J
PJ
Lupien
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D005260:Female; D005602:France / Q000208:ethnology; D006579:Heterozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011792:Quebec / Q000453:epidemiology; D011973:Receptors, LDL / Q000235:genetics*
D017931:DNA Primers; D011973:Receptors, LDL