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Repetitive sequences involved in the recombination leading to deletion of exon 5 of the low-density-lipoprotein receptor gene in a patient with familial hypercholesterolemia

✍ Scribed by Niels S. RÜDIGER; Peter S. HANSEN; Margrethe JØRGENSEN; Ole FAERGEMAN; Lars BOLUND; Niels GREGERSEN


Book ID
115128573
Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
444 KB
Volume
198
Category
Article
ISSN
1432-1327

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A novel deletion in the low-density lipo
✍ Michail Ju. Mandelshtam; Boris M. Lipovetskyi; Alexandr L. Schwartzman; Vladimir 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 451 KB 👁 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