Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia-Reference-Cited by-同舟云学术

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Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia

Published:2010-03-10 Issue:8 Volume:37 Page:3869-3875
ISSN:0301-4851
Container-title:Molecular Biology Reports
language:en
Short-container-title:Mol Biol Rep

Author:

Ajmal Muhammad,Ahmed Waqas,Sadeque Ahmed,Ali Syeda Hafiza Benish,Bokhari Syed Habib,Ahmed Nuzhat,Qamar Raheel

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s11033-010-0043-0.pdf

Reference39 articles.

1. Brown MS, Goldstein JL (1986) A receptor-mediated pathway for cholesterol homeostasis. Science 232:34–47

2. Bourbon M, Alves AC, Medeiros AM, Silva S, Soutar AK, Investigators of Portuguese FH Study (2008) Familial hypercholesterolemia in Portugal. Atherosclerosis 196:633–642

3. Austin MA, Hutter CM, Zimmern RL, Humphries SE (2004) Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol 160:407–420

4. Cheng X, Ding J, Zheng F, Zhou X, Xiong C (2009) Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia. Mol Biol Rep 36:2053–2057

5. Varret M, Abifadel M, Rabès JP, Boileau C (2008) Genetic heterogeneity of autosomal dominant hypercholesterolemia. Clin Genet 73:1–13

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1. Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia;Genes;2022-01-15

2. Genetic and Clinical Characteristics of Patients With Homozygous and Compound Heterozygous Familial Hypercholesterolemia From Three Different Populations: Case Series;Frontiers in Genetics;2020-09-11

3. Decreased serum PON1 arylesterase activity in familial hypercholesterolemia patients with a mutated LDLR gene;Genetics and Molecular Biology;2018-09

4. Spectrum of mutations in homozygous familial hypercholesterolemia in India, with four novel mutations;Atherosclerosis;2016-12

5. Mining for genes related to choroidal neovascularization based on the shortest path algorithm and protein interaction information;Biochimica et Biophysica Acta (BBA) - General Subjects;2016-11

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