A common missense mutation (C210G) in the LDL receptor gene among Norwegian familial hypercholesterolemia subjects.
Sundvold
H
H
Department of Medical Genetics, Ullevål University Hospital, Oslo, Norway.
Solberg
K
K
Tonstad
S
S
Rødningen
O K
OK
Ose
L
L
Berg
K
K
Leren
T P
TP
D001483:Base Sequence; D005091:Exons; D006580:Genetic Carrier Screening; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation; D009664:Norway; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic; D011973:Receptors, LDL / Q000235:genetics*
D011973:Receptors, LDL