title: Duplication of exon 7-12 in the low-density lipoprotein receptor gene in three Danish patients with familial hypercholesterolemia.
abstract: Familial hypercholesterolemia (FH) is one of the most frequent single-gene disorders; nevertheless, it is commonly underdiagnosed and undertreated. To increase the number of individuals diagnosed and treated for FH, an ongoing discovery of novel FH mutations is necessary as a prerequisite to implement good nationwide genetic FH screening strategies. Here we report on the finding of a seldom exon 7-12 duplication in the low-density lipoprotein receptor gene of three Danish patients with FH.
authors: Department of Clinical Biochemistry and Pharmacology, Odense University Hospital, Odense, Denmark. soeren.feddersen@ouh.regionsyddanmark.dk
authors: Søren
authors: S
authors: Feddersen
authors: Martin
authors: M
authors: Overgaard
authors: Mads
authors: M
authors: Nybo
mesh_terms: D056915:DNA Copy Number Variations; D004252:DNA Mutational Analysis; D003718:Denmark; D005091:Exons; D005260:Female; D020440:Gene Duplication; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis* / Q000235:genetics; D007962:Leukocytes / Q000378:metabolism; D008875:Middle Aged; D011973:Receptors, LDL / Q000235:genetics*; D044465:White People / Q000235:genetics
chemical_list: D011973:Receptors, LDL