Condition: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE


rs1201229554 in LDLRAP1 gene and HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE PMID 11326085 2001 Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.

PMID 27247956 2016 Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy.

PMID 15485476 2004 Autosomal recessive hypercholesterolaemia: normalization of plasma LDL cholesterol by ezetimibe in combination with statin treatment.

PMID 12464675 2002 Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1.

PMID 12016260 2002 Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia.

PMID 12788851 2003 Clinical features and genetic analysis of autosomal recessive hypercholesterolemia.

PMID 21872251 2011 A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.

PMID 22157599 2012 Altered metabolism of low-density lipoprotein and very-low-density lipoprotein remnant in autosomal recessive hypercholesterolemia: results from stable isotope kinetic study in vivo.