Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia

被引：15

作者：

Muller, PY ^{[1
]}

Miserez, AR ^{[1
]}

机构：

[1] Univ Basel, Inst Biochem & Genet, Dept Clin Biol Sci, CH-4051 Basel, Switzerland

来源：

ATHEROSCLEROSIS SUPPLEMENTS | 2004年 / 5卷 / 05期

关键词：

low-density lipoprotein receptor; familial hypercholesterolemia; mutation; prevalence;

D O I：

10.1016/j.atherosclerosissup.2004.09.002

中图分类号：

R6 [外科学];

学科分类号：

1002 ; 100210 ;

摘要：

Molecular genetic testing for presymptomatic identification of subjects affected by familial hypercholesterolaemia (FH) is difficult due to the heterogeneity of the mutations in the gene encoding the low-density lipoprotein receptor (LDLR) in most populations. This investigation presents a detailed analysis of comparable, country-specific prevalence data of LDLR mutations in subjects with clinically defined FH and assesses the heterogeneous mutation diversity observed in most geographic regions. (C) 2004 Elsevier Ireland Ltd. All rights reserved.

引用

页码：1 / 5

页数：5

共 50 条

[31] Detection of a novel exon 4 low-density lipoprotein receptor gene deletion in a Swiss family with severe familial hypercholesterolemia
Neff, D
Ruschitzka, F
Hersberger, M
Enseleit, F
Hürlimann, D
Noll, G
Lüscher, T
Hänseler, E
CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 2003, 41 (03) : 266 - 271
[32] Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene
Tuerkmen, S.
Hoffmann, K.
Demirhan, Osman
Aruoba, Defne
Humphrey, N.
Mundlos, S.
EUROPEAN JOURNAL OF HUMAN GENETICS, 2008, 16 (09) : 1070 - 1074
[33] Two novel low-density lipoprotein receptor gene mutations (E397X and 347delGCC) in St. Petersburg familial hypercholesterolemia
Chakir, K
Mandelshtam, MJ
Shevtsov, SP
Golubkov, VI
Skobeleva, NA
Shur, YA
Zakharova, FM
Lipovetskyi, BM
Konstantinov, VO
Denisenko, AD
Gaitskhoki, VS
Schwartz, EI
MOLECULAR GENETICS AND METABOLISM, 1998, 65 (04) : 311 - 314
[34] High prevalence of a novel mutation in the exon 4 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia in Belgium
Descamps, O
Hondekijn, JC
VanAcker, P
Deslypere, JP
Heller, FR
CLINICAL GENETICS, 1997, 51 (05) : 303 - 308
[35] A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia
Koivisto, UM
Kontula, K
HUMAN MUTATION, 1996, 8 (04) : 326 - 332
[36] Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia
Al-Khateeb, Alyaa
Zahri, Mohd K.
Mohamed, Mohd S.
Sasongko, Teguh H.
Ibrahim, Suhairi
Yusof, Zurkurnai
Zilfalil, Bin A.
BMC MEDICAL GENETICS, 2011, 12
[37] PCSK9 gene mutations and low-density lipoprotein cholesterol
Wu, Na-Qiong
Li, Jian-Jun
CLINICA CHIMICA ACTA, 2014, 431 : 148 - 153
[38] Human low-density lipoprotein receptor gene and its regulation
Kong, WJ
Liu, JW
Jiang, JD
JOURNAL OF MOLECULAR MEDICINE-JMM, 2006, 84 (01): : 29 - 36
[39] COMMON MUTATIONS IN THE LOW-DENSITY-LIPOPROTEIN-RECEPTOR GENE CAUSING FAMILIAL HYPERCHOLESTEROLEMIA IN THE JAPANESE POPULATION
MARUYAMA, T
MIYAKE, Y
TAJIMA, S
HARADASHIBA, M
YAMAMURA, T
TSUSHIMA, M
KISHINO, BI
HORIGUCHI, Y
FUNAHASHI, T
MATSUZAWA, Y
YAMAMOTO, A
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 1995, 15 (10) : 1713 - 1718
[40] Human low-density lipoprotein receptor gene and its regulation
Wei-Jia Kong
Jingwen Liu
Jian-Dong Jiang
Journal of Molecular Medicine, 2006, 84 : 29 - 36

← 1 2 3 4 5 →