it M/inchen Summary. Serum lipid concentrations of patients with familial defective apolipoprotein B-100 (FDB) show a high interindividual variability although the underlying defect is caused by a single point mutation. On the other hand, several genetic factors modulating serum cholesterol levels a
Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene
✍ Scribed by Bednarska-Makaruk, Małgorzata; Bisko, Mariola; Puławska, Maria F; Hoffman-Zacharska, Dorota; Rodo, Maria; Roszczynko, Marta; Solik-Tomassi, Alicja; Broda, Grażyna; Polakowska, Maria; Pytlak, Aleksandra
- Book ID
- 110025195
- Publisher
- Nature Publishing Group
- Year
- 2001
- Tongue
- English
- Weight
- 197 KB
- Volume
- 9
- Category
- Article
- ISSN
- 1018-4813
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📜 SIMILAR VOLUMES
## 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
The apolipoprotein B gene is subject to mutations that may be important in coronary heart diseases. We have used polymerase chain reaction and denaturing gradient gel electrophoresis to characterize a single nucleotide substitution in the apolipoprotein B gene. This mutation affects amino acid 4311