𝔖 Bobbio Scriptorium
✦   LIBER   ✦

ABCG8 gene polymorphisms, plasma cholesterol concentrations, and risk of cardiovascular disease in familial hypercholesterolemia

✍ Scribed by Kristel C.M.C. Koeijvoets; Jeroen B. van der Net; Geesje M. Dallinga-Thie; Ewout W. Steyerberg; Ronald P. Mensink; John J.P. Kastelein; Eric J.G. Sijbrands; Jogchum Plat

Book ID
118422300
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
145 KB
Volume
204
Category
Article
ISSN
0021-9150

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

A double mutant [N543H+2393del9] allele
A double mutant [N543H+2393del9] allele in the LDL receptor gene in familial hypercholesterolemia: effect on plasma cholesterol levels and cardiovascular disease
✍ S. Castillo; G. Reyes; D. Tejedor; P. Mozas; Y. Suarez; M.A. Lasuncion; A. Cenar πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 51 KB

Familial hypercholesterolemia is a genetic disorder caused by mutations in the LDL receptor gene. During a survey of mutations of LDL receptor gene in Spanish FH patients we found two mutations in the same allele: a missense N543H mutation in exon 11 and a 9bp inframe deletion (2393del9) located in