title: An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants.
authors.affiliation: Center for Medical Molecular Biology, Aarhus University Hospital, Denmark.
authors.forename: L G
authors.initials: LG
authors.lastname: Jensen
authors.forename: H K
authors.initials: HK
authors.lastname: Jensen
authors.forename: H
authors.initials: H
authors.lastname: Nissen
authors.forename: K
authors.initials: K
authors.lastname: Kristiansen
authors.forename: O
authors.initials: O
authors.lastname: Faergeman
authors.forename: L
authors.initials: L
authors.lastname: Bolund
authors.forename: N
authors.initials: N
authors.lastname: Gregersen
mesh_terms: 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
chemical_list: D012333:RNA, Messenger; D011973:Receptors, LDL