Article
A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree.
Human genetics - 1 Mar 2004
Timms Kirsten M, Wagner Susanne, Samuels Mark E, Forbey Kristian, Goldfine Howard, Jammulapati Srikanth, Skolnick Mark H, Hopkins Paul N, Hunt Steve C, Shattuck Donna M
Abstract excerpt
Familial hypercholesterolemia results from mutations in the low-density lipoprotein (LDL) receptor or apolipoprotein B genes. We have previously reported the identification of a Utah autosomal-dominant hypercholesterolemia pedigree (kindred 1173) that did not show linkage to either of these loci (Hunt et al. 2000). Expansion of the pedigree and increased marker density within the region of interest have resulted...
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