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New mutations in APOB100 involved in familial hypobetalipoproteinemia

✍ 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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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.

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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