𝔖 Bobbio Scriptorium
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[56] NONSYNONYMOUS MUTATIONS WITHIN APOB GENE IN FAMILIAL HYPOBETALIPOPROTEINEMIA

✍ 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.

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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