Article
Phenotypic variation in patients heterozygous for familial defective apolipoprotein B (FDB) in three European countries.
Arteriosclerosis, thrombosis, and vascular biology - 1 Apr 1997
Hansen P S, Defesche J C, Kastelein J J, Gerdes L U, Fraza L, Gerdes C, Tato F, Jensen H K, Jensen L G, Klausen I C, Faergeman O, Schuster H
Abstract excerpt
A glutamine-for-arginine substitution at amino acid position 3500 of apolipoprotein B (apo B) causes synthesis of LDL with reduced binding affinity to the LDL receptor (LDLR). The associated clinical syndrome has been named familial defective apolipoprotein B- 100 (FDB). In 205 FDB patients from Germany (n = 73). The Netherlands (n = 87), and Denmark (n = 45), we tried to assess determinants of variation in lipid...
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