1.P.46 Detecting mutations in the lipoprotein lipase gene. Establishment and testing of a screening method
✍ Scribed by L.N. Krogh; F.L. Henriksen; H. Nissen; N.E. Petersen; M. Hørder
- Book ID
- 119437094
- Publisher
- Elsevier Science
- Year
- 1997
- Tongue
- English
- Weight
- 167 KB
- Volume
- 134
- Category
- Article
- ISSN
- 0021-9150
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## Communicated by Ellen Solomon The aim of this study was to identify mutations in the lipoprotein lipase (LPL) gene in 20 unrelated patients with familial lipoprotein deficiency (FLLD) and to investigate the genotype/phenotype relationship. The previously reported G188E mutation (Monsalve et al.
The single-strand conformational polymorphism (SSCP) method was used to look for mutations in the 3' half of exon 4 of the low-density lipoprotein receptor gene in patients with familial hypercholesterolaemia (FH). One set of conditions were found which allowed the detection of four of the mutations