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Article

New contributions to the study of common double mutants in the human LDL receptor gene.

Die Naturwissenschaften - 1 Nov 2011

Tejedor M Teresa, Cenarro Ana, Tejedor Diego, Stef Marianne, Palacios Lourdes, de Castro Isabel, García-Otín Angel L, Monteagudo Luis V, Civeira Fernando, Pocovi Miguel

Abstract excerpt

Variations in the gene encoding the low-density lipoprotein receptor (LDLR) can cause familial hypercholesterolemia (FH), one of the most common inherited metabolic disorders in humans. The functional effects of the p.Gln92Glu and p.Asn564His alterations are predicted as benign, but the c.313 + 1G>C and p.Lys799_Phe801del changes are believed to cause disease. Although p.Gln92Glu and c.313 + 1G>C have been...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 21935675
DOI: 10.1007/s00114-011-0845-5

Genes

LDLR

Variants

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