Associated Papers
Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.
Khani M et al.
Nature Communications, 2025
40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM4_ESM.xlsx › Supplementary_Data_2
Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol.
Chaves FJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Mutations in the low-density-lipoprotein receptor gene in German patients with familial hypercholesterolaemia.
Weiss N et al.
Journal of Inherited Metabolic Disease, 2000
Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor gene.
Mozas P et al.
Human Mutation, 2000
Low frequency of the common Norwegian and Finnish LDL-receptor mutations in Swedish patients with familial hypercholesterolaemia.
Lind S et al.
Journal of Internal Medicine, 1998
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