Associated Papers
A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.
Okada T et al.
Journal of Atherosclerosis and Thrombosis, 2026
Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.
Huang MN et al.
Lipids in Health and Disease, 2024
39731075 (PubMed )
Supplement: 12944_2024_2406_MOESM2_ESM.xlsx › Sheet1
Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype.
Medeiros AM et al.
Journal of Lipid Research, 2024
Update of the Portuguese Familial Hypercholesterolaemia Study.
Medeiros AM et al.
Atherosclerosis, 2010
Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.
Mardy S et al.
American Journal of Human Genetics, 1999
Select a paper to view details