Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Hypobetalipoproteinemia

Hypobetalipoproteinemia is a lipid disorder that result in low LDL and apolipoprotein B levels.

Systematic

Betalipoprotein deficiency
Abetalipoproteinemia
Hypobetalipoproteinemia
ANGPTL3
APOB

References:

1.

Musunuru K et al. (2010) Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia.

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2.

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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3.

Yuan B et al. (2000) Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22.

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4.

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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5.

OMIM.ORG article

Omim 605019 [^]
6.

Orphanet article

Orphanet ID 31154 [^]
7.

Wikipedia article

Wikipedia EN (Hypobetalipoproteinemia) [^]
Update: May 9, 2019