2014年1月2日 · Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the …

2020年2月3日 · The primary genetic cause of familial hypercholesterolemia (FH) is related to mutations in the LDLR gene encoding the Low-density Lipoprotein Receptor. LDLR structure is …

In this review, we discuss the clinical phenotypes of heterozygous and homozygous FH, the genetic variants in four genes (LDLR/APOB/PCSK9/LDLRAP1) underpinning the FH …

Familial hypercholesterolemia (FH) is a genetic disorder characterized by high cholesterol levels, specifically very high levels of low-density lipoprotein cholesterol (LDL cholesterol), in the …

家族性高胆固醇血症 (FH)是以肌腱黄瘤、 低密度脂蛋白胆固醇 (LDL-C)显著升高和早发 冠心病 (PCAD)为特征的一种常染色体遗传性疾病。 临床上分为杂合子FH (HeFH)和纯合子FH …

2024年9月23日 · The LDLR is an 893-amino acid cell surface glycoprotein that binds and internalizes LDL particles, primarily in the liver. Mutations in LDLR (i.e., “classic” FH) give rise …

2024年3月15日 · 家族性高胆固醇血症（Familial hypercholesterolemia，FH， OMIM # 143890）是一种遗传性疾病，其特征是循环中的 低密度脂蛋白胆固醇 （LDL-C）水平终身升 …

2015年11月26日 · Familial hypercholesterolemia (FH) is a common and serious dominant genetic disease and its main pathogenic gene is the low-density lipoprotein receptor (LDLR) gene....

Autosomal recessive hypercholesterolemia clinically resembles FH but is caused by mutations in an LDLR adaptor protein, which is named after the disorder (ARH). LDLR adaptor protein …

FH is a common metabolic disease clinically characterized by the presence of xanthomas and premature coronary heart disease. To date, about 1 741 variants have been identified in gene …