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Four New Mutations and Two Polymorphic Variants of the Low-Density Lipoprotein Receptor Gene in Familial Hypercholesterolemia Patients from St. Petersburg

โœ Scribed by Yu. A. Tatishcheva; M. Yu. Mandelshtam; V. I. Golubkov; B. M. Lipovetsky; V. S. Gaitskhoki


Book ID
110308166
Publisher
SP MAIK Nauka/Interperiodica
Year
2001
Tongue
English
Weight
136 KB
Volume
37
Category
Article
ISSN
1022-7954

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A novel deletion in the low-density lipo
โœ Michail Ju. Mandelshtam; Boris M. Lipovetskyi; Alexandr L. Schwartzman; Vladimir ๐Ÿ“‚ Article ๐Ÿ“… 1993 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 451 KB ๐Ÿ‘ 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