Associated Papers
Lysosomal Acid Lipase Deficiency: Genetics, Screening, and Preclinical Study.
Mashima R et al.
International Journal of Molecular Sciences, 2022
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.
Del Angel G et al.
Human Mutation, 2019
31180157 (PubMed )
Supplement: HUMU-40-2007-s003.xlsx › Supplementary_Table_3
Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia.
Sjouke B et al.
Atherosclerosis, 2016
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