✦ LIBER ✦

A novel deletion in the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia from Petersburg

✍ Scribed by Michail Ju. Mandelshtam; Boris M. Lipovetskyi; Alexandr L. Schwartzman; Vladimir S. Gaitskhoki

Publisher: John Wiley and Sons
Year: 1993
Tongue: English
Weight: 451 KB
Volume: 2
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1380020404

No coin nor oath required. For personal study only.

✦ Synopsis

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, and 6 from the LDLR gene, coding for the largest part of the receptor ligand-binding domain.

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