Genomics & Genetics Weekly
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Gene Therapy
Studies from University of Amsterdam provide new data on gene therapy
July 4th, 2008
According to recent research published in the journal Clinical Genetics, "In a large group of patients with the clinical phenotype of familial hypercholesterolemia, such as elevated low-density lipoprotein (LDL) cholesterol and premature atherosclerosis, but without functional mutations in the genes coding for the LDL receptor and apolipoprotein B, we examined the effect of 128 seemingly neutral exonic and intronic DNA variants, discovered by routine sequencing of these genes." "Two variants, G186G and R385R, were found to be associated with altered splicing. The nucleotide change leading to G186G resulted in the generation of new 3'-splice donor site in exon 4...
Source: Genomics & Genetics Weekly (2008-07-04)
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