Mandelshtam M J, Lipovetskyi B M, Schwartzman A L, Gaitskhoki V S
Department of Molecular Genetics, Institute for Experimental Medicine, St. Petersburg, Russian Federation.
Hum Mutat. 1993;2(4):256-60. doi: 10.1002/humu.1380020404.
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.
对50名患有IIa型高脂蛋白血症的圣彼得堡患者进行了低密度脂蛋白受体（LDLR）基因结构重排的筛查。发现了一处长度约为5千碱基（kb）的新型缺失。该缺失似乎完全去除了LDLR基因中的第4、5和6外显子，这些外显子编码受体配体结合域的大部分。
