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

作者：MANDELSHTAM MJ^*; LIPOVETSKYI BM; SCHWARTZMAN AL; GAITSKHOKI VS

来源：Human Mutation, 1993, 2(4): 256-260.

DOI：10.1002/humu.1380020404

• FAMILIAL HYPERCHOLESTEROLEMIA (FH)
• LOW-DENSITY LIPOPROTEIN RECEPTOR (LDLR) GENE
• SOUTHERN BLOTTING
• DNA DELETION

Fifty St. Petersburg patients with type Ila 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.

• 出版日期1993