Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5986112 | Journal of Clinical Lipidology | 2013 | 4 Pages |
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.
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Authors
Søren MSc, PhD, Martin MSc, PhD, Mads MD, PhD,