Die Hypobetalipoproteinemie ist eine Erkrankung, die durch extrem niedrige LDL- und Apolipoprotein B Spiegel auffällt.
1. |
Musunuru K et al. (2010) Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. |
2. |
Pulai JI et al. (1998) Genetic heterogeneity in familial hypobetalipoproteinemia: linkage and non-linkage to the apoB gene in Caucasian families. |
3. |
Yuan B et al. (2000) Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22. |
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. |
5. |
OMIM.ORG article Omim 605019 |
6. |
Orphanet article Orphanet ID 31154 |