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Article

Functional analysis of the synonymous R385R mutation in the low-density lipoprotein receptor gene.

Genetic testing and molecular biomarkers - 1 Apr 2009

Tveten Kristian, Khoo Kah-Lin, Berge Knut Erik, Leren Trond P, Kulseth Mari Ann

Abstract excerpt

Familial hypercholesterolemia is caused by mutations in the low-density lipoprotein receptor (LDLR) gene. The synonymous mutation R385R has been shown to introduce a cryptic splice site in exon 9. The aims of this study were to establish to what extent the cryptic splice site is selected ahead of the normal splice site and to determine if the aberrant transcript is degraded by nonsense-mediated mRNA decay. The...

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Source

Identifiers

PMID: 19371225
DOI: 10.1089/gtmb.2008.0125

Genes

LDLR

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