𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Familial lipoprotein lipase (LPL) defici
✍ France Mailly; Jutta Palmen; David P. R. Muller; Tracy Gibbs; June Lloyd; John B 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 232 KB 👁 1 views

## 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.

Use of the single-strand conformational
✍ Gudnason, V. ;Mak, Y-T. ;Betteridge, J. ;McCarthy, S.N. ;Humphries, S. 📂 Article 📅 1993 🏛 Springer-Verlag 🌐 English ⚖ 962 KB

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