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Familial hypobetalipoproteinemia: genetics and metabolism

โœ Scribed by G. Schonfeld; X. Lin; P. Yue

Book ID
105758050
Publisher
Springer
Year
2005
Tongue
English
Weight
120 KB
Volume
62
Category
Article
ISSN
1420-682X

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Familial hypobetalipoproteinemia (FHBL) is an autosomal dominant disorder of lipid metabolism characterized by extremely low plasma levels of apolipoprotein B (apoB), and total-, and low-density lipoprotein (LDL) cholesterol. Various truncated forms of apoB have been found to cosegregate with the FH

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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

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Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia
โœ Pin Yue; Bo Yuan; Daniela S. Gerhard; Rosalind J. Neuman; William L. Isley; Will ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 152 KB

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.