New mutations in APOB100 involved in familial hypobetalipoproteinemia
β Scribed by Klaus Brusgaard; Lars Kjaersgaard; Anne-Birthe Bo Hansen; Steffen Husby
- Book ID
- 119287809
- Publisher
- Elsevier
- Year
- 2010
- Tongue
- English
- Weight
- 218 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1933-2874
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π SIMILAR VOLUMES
Familial hypobetalipoproteinemia (FHBL) is a genetic disorder characterized by low levels of apoB-100 and LDL cholesterol. Truncation-producing mutations of apoB (chromosome 2) are among several potential causes of FHBL in patients. Ten new families with FHBL linked to chromosome 2 were identified.
Familial hypobetalipoproteinemia (FHBL) is a rare codominant disorder of lipoprotein metabolism characterized by low levels of low-density lipoprotein (LDL) cholesterol and apolipoprotein (apo) B. Heterozygotes for FHBL have less-than-half normal LDL-cholesterol and apoB concentrations, whereas homo