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Exon-Alu Recombination Deletes 5 Kilobases from the Low Density Lipoprotein Receptor Gene, Producing a Null Phenotype in Familial Hypercholesterolemia

โœ Scribed by Mark A. Lehrman, David W. Russell, Joseph L. Goldstein and Michael S. Brown


Book ID
123633031
Publisher
National Academy of Sciences
Year
1986
Tongue
English
Weight
999 KB
Volume
83
Category
Article
ISSN
0027-8424

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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