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Article

Familial defective apolipoprotein B100: clinical characteristics of 54 cases.

Atherosclerosis - 1 Feb 1992

Rauh G, Keller C, Kormann B, Spengel F, Schuster H, Wolfram G, Zöllner N

Abstract excerpt

Familial defective apolipoprotein B100 (FDB) is a recently identified dominantly inherited genetic disorder, which is characterized by a decreased affinity of low density lipoprotein (LDL) for the LDL receptor. FDB is caused by a G to A mutation at nucleotide 10 708 in exon 26 of the apo B gene creating a substitution of glutamine for arginine in the codon for amino acid 3500. To determine the consequences of the...

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PMID: 1632851
DOI: 10.1016/0021-9150(92)90283-m

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