Article
The familial hypercholesterolemia (FH)-North Karelia mutation of the low density lipoprotein receptor gene deletes seven nucleotides of exon 6 and is a common cause of FH in Finland.
The Journal of clinical investigation - 1 Jul 1992
Koivisto U M, Turtola H, Aalto-Setälä K, Top B, Frants R R, Kovanen P T, Syvänen A C, Kontula K
Abstract excerpt
A mutation of the LDL receptor gene very common among Finnish patients with heterozygous familial hypercholesterolemia (FH) was identified. This mutation, designated as FH-North Karelia, deletes seven nucleotides from exon 6 of the LDL receptor gene, causes a translational frameshift, and is predicted to result in a truncated receptor protein. Only minute quantities of mRNA corresponding to the deleted gene were...
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