Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Hypobetalipoproteinemia is a lipid disorder that result in low LDL and apolipoprotein B levels.
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Musunuru K et al. (2010) Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. 
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Pulai JI et al. (1998) Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families.
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Yuan B et al. (2000) Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22.
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Sherva R et al. (2007) Evidence for a quantitative trait locus affecting low levels of apolipoprotein B and low density lipoprotein on chromosome 10 in Caucasian families.
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OMIM.ORG article Omim 605019
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Orphanet article Orphanet ID 31154
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Wikipedia article Wikipedia EN (Hypobetalipoproteinemia)
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