[56] NONSYNONYMOUS MUTATIONS WITHIN APOB GENE IN FAMILIAL HYPOBETALIPOPROTEINEMIA
β Scribed by L. Magnolo; E. Di Leo; E. Pinotti; T. Fancello; S. Zhong; Z. Yao; P. Tarugi
- Book ID
- 117638990
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 55 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0939-4753
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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.
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