Autosomal recessive hypercholesterolaemia: Discrimination of ARH protein and LDLR function in the homozygous FH phenotype - Abera, Aron B.; Marais, A. David; Raal, Frederick J.; Leisegang, Felicity; Jones, Sheena; George, Peter; Henderson, Howard E. (Clinica chimica acta, 2007)
Keywords: Adaptor Proteins, Signal Transducing - deficiency; Adaptor Proteins, Signal Transducing - genetics; Adaptor Proteins, Signal Transducing - physiology; Adult; ARH deficiency; Autosomal recessive hypercholesterolaemia; Blotting, Western; Female; Gene mutations; Haplotypes; Humans; Hypercholesterolemia - genetics; LDLR function; Male; Mutation; Phenotype; Polymorphism, Single Nucleotide; Receptors, LDL - genetics; Receptors, LDL - physiology; Western blotting; ARH deficiency; Autosomal recessive hypercholesterolaemia; LDLR function; Gene mutations; Western blotting