Autosomal recessive hypercholesterolemia (ARH) is caused by mutations of the LDLRAP1. The name is a bit misleading as we know today that the more genes of the lipid metabolism are altered and the more severe the mutations the more prominent the clinical picture.
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Zuliani G et al. (1999) Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia. |
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Haddad L et al. (1999) Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred. |
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Norman D et al. (1999) Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia. |
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Ciccarese M et al. (2000) A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26. |
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Garcia CK et al. (2001) Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. |
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Al-Kateb H et al. (2002) Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia. |
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Canizales-Quinteros S et al. (2005) A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia. |
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Jones C et al. (2007) Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia. |
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Zuliani G et al. (1995) Severe hypercholesterolaemia: unusual inheritance in an Italian pedigree. |
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Rallidis L et al. (1996) Aortic stenosis in homozygous familial hypercholesterolaemia. |
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OMIM.ORG article Omim 603813 |