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Two Novel Slavic Point Mutations in the Low-Density Lipoprotein Receptor Gene in Patients with Familial Hypercholesterolemia from St. Petersburg, Russia

✍ Scribed by Chakir Kh.; Natalia A. Skobeleva; Sergei P. Shevtsov; Vladimir O. Konstantinov; Alexander D. Denisenko; Eugene I. Schwartz


Book ID
115639341
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
301 KB
Volume
63
Category
Article
ISSN
1096-7192

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A novel deletion in the low-density lipo
✍ Michail Ju. Mandelshtam; Boris M. Lipovetskyi; Alexandr L. Schwartzman; Vladimir πŸ“‚ Article πŸ“… 1993 πŸ› John Wiley and Sons 🌐 English βš– 451 KB πŸ‘ 1 views

Fifty St. Petersburg patients with type IIa hyperlipoproteinemia were screened for the presence of structural rearrangements in the low-density lipoprotein receptor (LDLR) gene. One novel deletion of the length about 5 kilobases (kb) was found. This deletion seems to remove completely exons 4, 5, an