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Gene Therapy
New gene therapy study results reported from M. Bourbon et al
June 18th, 2009
According to a study from Lisbon, Portugal, "Familial hypercholesterolemia (FH) results from defective low-density lipoprotein receptor (LDLR) activity, mainly due to LDLR gene defects. Of the many different LDLR mutations found in patients with FH, about 6% of single base substitutions are located near or within introns, and are predicted to result in exon skipping, retention of an intron, or activation of cryptic sites during mRNA splicing." "This paper reports on the Portuguese FH Study, which found 10 such mutations, 6 of them novel. For the mutations that have not been described before or those whose effect on function have not been analysed, their effect on...
Source: Gene Therapy Weekly (2009-06-18)
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