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Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing

โœ Scribed by JC Defesche; EJM Schuurman; LN Klaaijsen; KL Khoo; A Wiegman; AFH Stalenhoef


Book ID
110888600
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
280 KB
Volume
73
Category
Article
ISSN
0009-9163

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Familial hypercholesterolemia (FH) is an autosomal dominant disease caused by mutations in the low density lipoprotein (LDL) receptor gene. Here, we characterize an LDL receptor mutation that is associated with a distinct haplotype and that causes FH in the Jewish Sephardic population originating fr