Duplication of exon 7-12 in the low-density Lipoprotein receptor gene in three Danish patients with familial hypercholesterolemia

被引：2
|
作者：
Feddersen, Soren [1 ]
Overgaard, Martin [1 ]
Nybo, Mads [1 ]
机构：
[1] Odense Univ Hosp, Dept Clin Biochem & Pharmacol, DK-5000 Odense, Denmark
来源：
JOURNAL OF CLINICAL LIPIDOLOGY | 2013年 / 7卷 / 02期
关键词：
Cholesterol; Duplication; Familial hypercholesterolemia; Genomic rearrangements; LDL receptor; LARGE REARRANGEMENTS; LDLR GENE; MUTATIONS; DELETIONS; IDENTIFICATION; PROTEIN;
D O I：
10.1016/j.jacl.2012.11.003
中图分类号：
R9 [药学];
学科分类号：
1007 ;
摘要：
Familial hypercholesterolemia (FH) is one of the most frequent single-gene disorders; nevertheless, it is commonly underdiagnosed and undertreated. To increase the number of individuals diagnosed and treated for FH, an ongoing discovery of novel FH mutations is necessary as a prerequisite to implement good nationwide genetic FH screening strategies. Here we report on the finding of a seldom exon 7-12 duplication in the low-density lipoprotein receptor gene of three Danish patients with FH. (C) 2013 National Lipid Association. All rights reserved.
引用
收藏
页码：174 / 177
页数：4
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