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Article

Autosomal recessive hypercholesterolaemia: discrimination of ARH protein and LDLR function in the homozygous FH phenotype.

Clinica chimica acta; international journal of clinical chemistry - 1 Mar 2007

Abera Aron B, Marais A David, Raal Frederick J, Leisegang Felicity, Jones Sheena, George Peter, Henderson Howard E

Abstract excerpt

BACKGROUND: Phenocopies of homozygous familial hypercholesterolemia (hoFH) having autosomal recessive inheritance, were recently found to arise from defects in the LDL receptor (LDLR) adapter protein, called ARH, which facilitates the clearance of circulating LDL. Discrimination between the two causes of the phenotype at a clinical level may not be possible when parents display moderate hypercholesterolaemia. An...

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Share to Adaptor Proteins, Signal Transducing
Share to Blotting, Western

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Polymorphism, Single Nucleotide

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Source

Identifiers

PMID: 17150201
DOI: 10.1016/j.cca.2006.10.005

Genes

LDLR

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