Associated Papers
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1
The distribution and characteristics of LDL receptor mutations in China: A systematic review.
Jiang L et al.
Scientific Reports, 2015
26608663 (PubMed )
Supplement: srep17272-s1.doc
[Research progression of LDLR mutations in Chinese Familial hypercholesterolemia].
Dai YF et al.
Yi Chuan = Hereditas, 2011
Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
Chiou KR et al.
The American Journal of Cardiology, 2010
Update of Japanese common LDLR gene mutations and their phenotypes: Mild type mutation L547V might predominate in the Japanese population.
Miyake Y et al.
Atherosclerosis, 2009
Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations?
Blesa S et al.
Clinical Chemistry, 2006
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
Mozas P et al.
Human Mutation, 2004
Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor gene.
Mozas P et al.
Human Mutation, 2000
LDLR Database (second edition): new additions to the database and the software, and results of the first molecular analysis.
Varret M et al.
Nucleic Acids Research, 1998
Detection of common sequence variations of familial hypercholesterolemia in Taiwan using DNA mass spectrometry.
Chiou KR et al.
Journal of Clinical Lipidology, 0
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