Associated Papers
Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.
Madar L et al.
Genes, 2022
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Di Taranto MD et al.
Clinical Genetics, 2021
Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.
Doi T et al.
Journal of the American Heart Association, 2021
Novel compound heterozygous mutations in low density lipoprotein receptor gene causes a severe phenotype in a Chinese hypercholesterolemia family.
Cheng X et al.
Experimental and Therapeutic Medicine, 2018
Population specific genetic heterogeneity of familial hypercholesterolemia in South Africa.
Smyth N et al.
Current Opinion in Lipidology, 2018
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
Sharifi M et al.
Metabolism: Clinical and Experimental, 2016
[The phenotypes of a hypercholesterolemia family with low density lipoprotein receptor exon 13 A606T mutation].
Cheng XY et al.
Zhonghua Nei Ke Za Zhi, 2012
Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.
Whittall RA et al.
Annals of Clinical Biochemistry, 2010
Healthy individuals carrying the PCSK9 p.R46L variant and familial hypercholesterolemia patients carrying PCSK9 p.D374Y exhibit lower plasma concentrations of PCSK9.
Humphries SE et al.
Clinical Chemistry, 2009
Genetic diagnosis of familial hypercholesterolemia in Han Chinese.
Chiou KR et al.
Journal of Clinical Lipidology, 0
Ezetimibe in the management of homozygous familial hypercholesterolaemia.
Mansfield BS et al.
Journal of Clinical Lipidology, 0
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