Condition: Hypoalphalipoproteinemia, Familial


rs137854499 in ABCA1 gene and Hypoalphalipoproteinemia, Familial PMID 15722566 2005 Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency.

PMID 22962670 2012 Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline.

PMID 12204794 2002 ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease.

PMID 11086027 2000 Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.

PMID 10533863 1999 Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux.

PMID 10431236 1999 Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

PMID 12009425 2002 Novel ABCA1 compound variant associated with HDL cholesterol deficiency.

PMID 24097981 2013 Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.

PMID 16343503 2006 Functional mutations of the ABCA1 gene in subjects of French-Canadian descent with HDL deficiency.

PMID 22923419 2012 Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family.

PMID 11238261 2001 Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease.

PMID 16429166 2005 Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene.

PMID 15297675 2004 Multiple rare alleles contribute to low plasma levels of HDL cholesterol.