An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants.
Jensen
L G
LG
Center for Medical Molecular Biology, Aarhus University Hospital, Denmark.
Jensen
H K
HK
Nissen
H
H
Kristiansen
K
K
Faergeman
O
O
Bolund
L
L
Gregersen
N
N
D000483:Alleles; D001483:Base Sequence; D006580:Genetic Carrier Screening; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic; D012333:RNA, Messenger / Q000235:genetics; D011973:Receptors, LDL / Q000235:genetics*; D014158:Transcription, Genetic
D012333:RNA, Messenger; D011973:Receptors, LDL