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
✦ LIBER ✦
Identification of a heterozygous compound individual with familial hypercholesterolemia and familial defective apolipoprotein B-100
✍ Scribed by Rauh, G. ;Schuster, H. ;Fischer, J. ;Keller, Ch. ;Wolfram, G. ;Zöllner, N.
- Publisher
- Springer-Verlag
- Year
- 1991
- Tongue
- English
- Weight
- 621 KB
- Volume
- 69
- Category
- Article
- ISSN
- 1432-1440
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## Communicated by Michel Goossens Familial ligand-defective apolipoprotein B-100 (FDB) is an autosomal dominant disorder leading to plasma LDL cholesterol elevation and coronary artery disease (CAD). Two specific mutations in the APOB gene-R3500Q and R3531C-induce FDB. We report an original metho