[HTML][HTML] Genetic heterogeneity of familial hypercholesterolemia: repercussions for molecular diagnosis
MD Di Taranto, G Fortunato - International Journal of Molecular Sciences, 2023 - mdpi.com
Genetics of Familial Hypercholesterolemia (FH) is ascribable to pathogenic variants in
genes encoding proteins leading to an impaired LDL uptake by the LDL receptor (LDLR) …
genes encoding proteins leading to an impaired LDL uptake by the LDL receptor (LDLR) …
[HTML][HTML] Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype
Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism
caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes …
caused by pathogenic/likely pathogenic variants in LDLR, APOB, and PCSK9 genes …
[HTML][HTML] Spectrum of mutations in Italian patients with familial hypercholesterolemia: new results from the LIPIGEN study
Background Familial hypercholesterolemia (FH) is an autosomal dominant disease
characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of …
characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of …
Variable expressivity and co‐occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy
Background The familial inherited genetic disorder of lipoprotein metabolism affects more
than 10 million individuals around the world. Lebanon is one of the several endemic areas …
than 10 million individuals around the world. Lebanon is one of the several endemic areas …
[HTML][HTML] Genetic determinants of inherited susceptibility to hypercholesterolemia–a comprehensive literature review
CS Paththinige, ND Sirisena… - Lipids in health and …, 2017 - Springer
Hypercholesterolemia is a strong determinant of mortality and morbidity associated with
cardiovascular diseases and a major contributor to the global disease burden. Mutations in …
cardiovascular diseases and a major contributor to the global disease burden. Mutations in …
A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia
M Soufi, S Rust, M Walter, JR Schaefer - Gene, 2013 - Elsevier
Familial hypercholesterolemia (FH) results from impaired catabolism of plasma low density
lipoproteins (LDL), thus leading to high cholesterol, atherosclerosis, and a high risk of …
lipoproteins (LDL), thus leading to high cholesterol, atherosclerosis, and a high risk of …
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement
MD Di Taranto, C Giacobbe, D Palma… - Clinical …, 2021 - Wiley Online Library
Familial hypercholesterolemia (FH) is the most common genetic disease caused by variants
in LDLR, APOB, PCSK9 genes; it is characterized by high levels of LDL‐cholesterol and …
in LDLR, APOB, PCSK9 genes; it is characterized by high levels of LDL‐cholesterol and …
[HTML][HTML] The genetics and screening of familial hypercholesterolaemia
R Henderson, M O'Kane, V McGilligan… - Journal of biomedical …, 2016 - Springer
Familial Hypercholesterolaemia is an autosomal, dominant genetic disorder that leads to
elevated blood cholesterol and a dramatically increased risk of atherosclerosis. It is …
elevated blood cholesterol and a dramatically increased risk of atherosclerosis. It is …
Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in …
I Tosi, P Toledo-Leiva, C Neuwirth, RP Naoumova… - Atherosclerosis, 2007 - Elsevier
Familial hypercholesterolaemia (FH) results from defective catabolism of low density
lipoproteins (LDL), leading to premature atherosclerosis and early coronary heart disease. It …
lipoproteins (LDL), leading to premature atherosclerosis and early coronary heart disease. It …
Genetic and molecular architecture of familial hypercholesterolemia
M Abifadel, C Boileau - Journal of internal medicine, 2023 - Wiley Online Library
Atherosclerotic cardiovascular disease is the leading cause of death globally. Despite its
important risk of premature atherosclerosis and cardiovascular disease, familial …
important risk of premature atherosclerosis and cardiovascular disease, familial …
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