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Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene

โœ Scribed by Francesco Sacc


Book ID
126343073
Publisher
Springer
Year
2012
Tongue
English
Weight
349 KB
Volume
260
Category
Article
ISSN
0340-5354

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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