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
Destabilization of mutated human PUS3 protein causes intellectual disability.
Lin TY et al.
Human Mutation, 2022
36125428 (PubMed )
Supplement: HUMU-43-2063-s002.xlsx › Pat._3_
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
36053979 (PubMed )
Supplement: CGE-102-414-s006.xlsx › Blad_1
Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia.
Alves AC et al.
Atherosclerosis, 2018
Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.
Huijgen R et al.
Human Mutation, 2012
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