Associated Papers
Targeted sequencing of a gene panel in patients with familial hypercholesterolemia from Southern Poland.
Totoń-Żurańska J et al.
Polish Archives of Internal Medicine, 2023
FH ALERT: efficacy of a novel approach to identify patients with familial hypercholesterolemia.
Fath F et al.
Scientific Reports, 2021
Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data.
Sabatel-Pérez F et al.
Journal of Clinical Medicine, 2021
33668494 (PubMed )
Supplement: jcm-10-00749-s001.pdf
Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
Brænne I et al.
European Journal of Human Genetics : Ejhg, 2016
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
Futema M et al.
Journal of Medical Genetics, 2014
24987033 (PubMed )
Supplement: jmedgenet-2014-102405-s1.pdf
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
Alves AC et al.
Human Molecular Genetics, 2014
Postprandial lipid absorption in seven heterozygous carriers of deleterious variants of MTTP in two abetalipoproteinemic families.
Di Filippo M et al.
Journal of Clinical Lipidology, 0
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