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Effect of sesamin on serum cholesterol and triglycerides levels in LDL receptor-deficient mice

✍ Scribed by José L. Peñalvo; Anu Hopia; Herman Adlercreutz

Publisher
Springer
Year
2006
Tongue
English
Weight
161 KB
Volume
45
Category
Article
ISSN
1436-6207

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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 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 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