A NOVEL DELETION IN THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE IN A PATIENT WITH FAMILIAL HYPERCHOLESTEROLEMIA FROM PETERSBURG

Authors
MANDELSHTAM MJ LIPOVETSKYI BM SCHWARTZMAN AL GAITSKHOKI VS
Citation
Mj. Mandelshtam et al., A NOVEL DELETION IN THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE IN A PATIENT WITH FAMILIAL HYPERCHOLESTEROLEMIA FROM PETERSBURG, Human mutation, 2(4), 1993, pp. 256-260
Citations number
24
Categorie Soggetti
Genetics & Heredity
Journal title
Human mutation → ACNP
ISSN journal
10597794
Volume
2
Issue
4
Year of publication
1993
Pages
256 - 260
Database
ISI
SICI code
1059-7794(1993)2:4<256:ANDITL>2.0.ZU;2-F
Abstract
Fifty St. Petersburg patients with type Ila hyperlipoproteinemia were screened for the presence of structural rearrangements in the low-dens ity lipoprotein receptor (LDLR) gene. One novel deletion of the length about 5 kilobases (kb) was found. This deletion seems to remove compl etely exons 4, 5, and 6 from the LDLR gene, coding for the largest par t of the receptor ligand-binding domain. (C) 1993 Wile Liss, Inc.