Cascade screening of a Pakistani consanguineous familial hypercholesterolemia cohort: Identification of seven new homozygous patients - Ain, Quratul; Sikonja, Jaka; Sadiq, Fouzia; Shafi, Saeed; Kafol, Jan; Gorjanc, Tevz; Sustar, Ursa; Kovac, Jernej; Khan, Mohammad Iqbal; Ajmal, Muhammad; Groselj, Urh (Atherosclerosis, 2025)
Keywords: Adolescent; Adult; Biomarkers - blood; Cardiovascular disease; Cascade screening; Child; Cholesterol, LDL - blood; Consanguineous; Consanguinity; Familial hypercholesterolemia; Female; Genetic Predisposition to Disease; Genetic Testing - methods; Heredity; High-Throughput Nucleotide Sequencing; Homozygote; Homozygous; Humans; Hyperlipoproteinemia Type II - blood; Hyperlipoproteinemia Type II - diagnosis; Hyperlipoproteinemia Type II - epidemiology; Hyperlipoproteinemia Type II - genetics; Lipoprotein(a) - blood; Male; Middle Aged; Mutation; Pakistan - epidemiology; Pedigree; Phenotype; Receptors, LDL - genetics; Young Adult; Pakistan; Cardiovascular disease; Familial hypercholesterolemia; Consanguineous; Cascade screening; Homozygous