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Genetic diagnosis of familial hypercholesterolaemia: the importance of function...
Bourbon, M.; Duarte, M.A.; Alves, A.C.; Medeiros, A.M.; Marques, L.; Soutar, A.K.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 r...
Data: 2009
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Origem: Repositório Científico do Instituto Nacional de Saúde
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