Genetics of familial hypercholesterolemia: new insights
M Vrablik, L Tichý, T Freiberger, V Blaha… - Frontiers in …, 2020 - frontiersin.org
Familial hypercholesterolemia (FH) is one of the most common monogenic diseases,
leading to an increased risk of premature atherosclerosis and its cardiovascular …
leading to an increased risk of premature atherosclerosis and its cardiovascular …
[HTML][HTML] Genetics of familial hypercholesterolemia
A Brautbar, E Leary, K Rasmussen, DP Wilson… - Current Atherosclerosis …, 2015 - Springer
Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-
density lipoprotein (LDL) cholesterol and premature cardiovascular disease, with a …
density lipoprotein (LDL) cholesterol and premature cardiovascular disease, with a …
Genetic architecture of familial hypercholesterolaemia
M Sharifi, M Futema, D Nair, SE Humphries - Current cardiology reports, 2017 - Springer
Abstract Purpose of Review Familial hypercholesterolaemia (FH) is an inherited disorder of
low-density lipoprotein cholesterol (LDL-C) which is characterised by a raised cholesterol …
low-density lipoprotein cholesterol (LDL-C) which is characterised by a raised cholesterol …
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction
Familial hypercholesterolemia (FH) is an oligogenic disorder characterized by markedly
elevated low-density lipoprotein cholesterol (LDLC) levels. Variants in four genes have been …
elevated low-density lipoprotein cholesterol (LDLC) levels. Variants in four genes have been …
[HTML][HTML] Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and …
Purpose Familial hypercholesterolemia (FH) is an autosomal disorder of lipid metabolism
presenting with increased cardiovascular risk. Although more than 1,700 variants have been …
presenting with increased cardiovascular risk. Although more than 1,700 variants have been …
The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations
I De Castro-Orós, M Pocoví, F Civeira - The application of clinical …, 2010 - Taylor & Francis
Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism
characterized by high plasma concentrations of low-density lipoprotein cholesterol (LDLc) …
characterized by high plasma concentrations of low-density lipoprotein cholesterol (LDLc) …
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia
A Meshkov, A Ershova, A Kiseleva, E Zotova… - Genes, 2021 - mdpi.com
Familial hypercholesterolemia (FH) is a common autosomal codominant disorder,
characterized by elevated low-density lipoprotein cholesterol levels causing premature …
characterized by elevated low-density lipoprotein cholesterol levels causing premature …
Update of the Portuguese familial hypercholesterolaemia study
AM Medeiros, AC Alves, V Francisco, M Bourbon - Atherosclerosis, 2010 - Elsevier
The main aim of the Portuguese Familial Hypercholesterolaemia Study is to identify the
genetic cause of hypercholesterolaemia in individuals with a clinical diagnosis of Familial …
genetic cause of hypercholesterolaemia in individuals with a clinical diagnosis of Familial …
[HTML][HTML] Familial hypercholesterolemia: global burden and approaches
L Tokgozoglu, M Kayikcioglu - Current cardiology reports, 2021 - Springer
Abstract Purpose of Review Familial hypercholesterolemia (FH) is the most common genetic
metabolic disorder characterized by markedly elevated LDL-C levels from birth leading to …
metabolic disorder characterized by markedly elevated LDL-C levels from birth leading to …
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations
Background Familial hypercholesterolaemia (FH) is an autosomal dominant disease of lipid
metabolism, which leads to early coronary heart disease. Mutations in LDLR, APOB and …
metabolism, which leads to early coronary heart disease. Mutations in LDLR, APOB and …
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