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Nutrition, Metabolism & Cardiovascular Diseases
Volume 19, Issue 6
, Pages 391-400
, July 2009
Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients
References
- . Monogenic hypercholesterolemia: new insights in pathogenesis and treatment. J Clin Invest. 2003;111(12):1795–1803
- . International Panel on Management of Familial Hypercholesterolemia. Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. Atherosclerosis. 2004;173(1):55–68
- . Molecular genetics of the LDL receptor gene in familial hypercholesterolemia. Hum Mutat. 1992;1(6):445–466
- Common mutations in the low-density-lipoprotein-receptor gene causing familial hypercholesterolemia in the Japanese population. Arterioscler Thromb Vasc Biol. 1995;15(10):1713–1718
- . Analysis of low density lipoprotein receptor function and gene mutation in familial hypercholesterolemic patients. Chin J Med Genet. 2003;20(2):138–142
- A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene. J Hum Genet. 2001;46(3):152–154
- Analysis of low-density lipoprotein receptor gene mutations in a Chinese patient with clinically homozygous familial hypercholesterolemia. Chin Med J. 2003;116(10):1535–1538
- . Gene sequencing research of three familial hypercholesterolemia families. Chin J Cardiol. 2002;30(6):347–350
- . A study on a novel mutation of lipoprotein receptor gene in patients with hypercholesterolemia. Chin J Med Genet. 2001;18(6):491–492
- . Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients. Arterioscler Thromb Vasc Biol. 1998;18(10):1600–1605
- . Mutations in low-density lipoprotein receptor gene as a cause of hypercholesterolemia in Taiwan. Metabolism. 2005;54(8):1082–1086
- Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia. Arterioscler Thromb Vasc Biol. 1999;19(2):408–418
- . The pathological changes of abdominal and peripheral arteries in familial hypercholesterolemia-The result of high-resolution color Doppler ultrasonography. Chin J Cardiol. 2005;33(4):340–342
- Transthoracic Doppler assessment of coronary flow velocity reserve in children with Kawasaki disease: Comparison with coronary angiography and thallium-201 imaging. J Am Coll Cardiol. 2002;40(10):1816–1824
- . Estimation of the concentration of low-density lipoprotein cholesterol in plasma, without use of the preparative ultracentrifuge. Clin Chem. 1972;18(6):499–502
- Application of Touchdown PCR technique in the research of detecting gene point mutation in LDL-R gene. Chinese Journal of Laboratory Medicine. 2003;26(7):403–406
- . Mutational analysis of the ligand binding domain of the low density lipoprotein receptor. J Biol Chem. 1988;263(26):13282–13290
- . The molecular basis of familial hypercholesterolemia in The Netherlands. Hum Genet. 2001;109(6):602–615
- www.ucl.ac.uk/ldlr/Current
- . N-linked oligosaccharides on the low density lipoprotein receptor homolog SorLA/LR11 are modified with terminal GalNAc-4-SO4 in kidney and brain. J Biol Chem. 2007;282(3):1873–1881
- . Activation and functional characterization of the mosaic receptor SorLA/LR11. J Biol Chem. 2001;276(25):22788–22796
- Familial hypercholesterolemia in St.-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia. BMC Med Genet. 2005;6:6
- Detection of a novel mutation (stop 468) in exon 10 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia among French Canadians. Hum Mol Genet. 1994;3(9):1689–1691
- Familial hypercholesterolemia in China: identification of mutations in the LDL receptor gene that result in a receptor-negative phenotype. Arterioscler Thromb Vasc Biol. 1994;14(1):85–94
- . Splice-site mutations in atherosclerosis candidate genes: relating individual information to phenotype. Circulation. 1999;100(7):693–699
- . Characterization of a splice-site mutation in the gene for the LDL receptor associated with an unpredictably severe clinical phenotype in English patients with heterozygous FH. Arterioscler Thromb Vasc Biol. 1995;15(2):219–227
- . Increased carotid intimal-medial thickness and coronary calcification are related in young and middle-aged adults. The Muscatine study. Circulation. 1999;100(8):838–842
PII: S0939-4753(08)00164-6
doi: 10.1016/j.numecd.2008.07.011
© 2008 Elsevier B.V. All rights reserved.
« Previous
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Nutrition, Metabolism & Cardiovascular Diseases
Volume 19, Issue 6
, Pages 391-400
, July 2009
