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Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population

✍ Scribed by A. Cenarro; H. K. Jensen; F. Civeira; E. Casao; J. Ferrando; J. González-Bonillo; M. Pocovi; N. Gregersen


Book ID
115091891
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
586 KB
Volume
49
Category
Article
ISSN
0009-9163

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✍ Ana Cenarro; Henrik K. Jensen; Elena Casao; Fernando Civeira; José González-Boni 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 46 KB 👁 2 views

We used the single strand conformation polymorphism (SSCP) method to investigate 13 apparently unrelated Spanish patients with familial hypercholesterolemia (FH) for mutations in the promoter region and the 18 exons and their flanking intron sequences of the low density lipoprotein (LDL) receptor ge