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Familial defective apolipoprotein B-100 versus familial hypercholesterolemia: An assessment of risk

Book ID
118630703
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
301 KB
Volume
3
Category
Article
ISSN
1567-5688

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Familial defective apolipoprotein B-100:
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Familial defective apolipoprotein B-100 (FDB) is a recently identified dominantly inherited genetic disorder characterized by a decreased binding of low density lipoprotein (LDL) to the LDL receptor due to defective apo B-100. FDB is caused by a G to A mutation at nucleotide 10,708 in exon 26 of the

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## Communicated by Michel Goossens Variability in the expression of monogenic lipid disorders may be observed in patients carrying the same DNA mutation, suggesting possible genetic or environmental interactions. Our objective was to investigate the genotype-phenotype relationships in two unrelate