Associated Papers
Exome Sequencing in Pacific Islanders With Nephropathies of Unknown Origin.
de Saint Gilles D et al.
Kidney International Reports, 2025
40630292 (PubMed )
Supplement: mmc1.pdf
A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.
Vitali C et al.
Journal of Lipid Research, 2022
35065092 (PubMed )
Supplement: mmc1.pdf
LCAT deficiency: a systematic review with the clinical and genetic description of Mexican kindred.
Mehta R et al.
Lipids in Health and Disease, 2021
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
High prevalence of mutations in LCAT in patients with low HDL cholesterol levels in The Netherlands: identification and characterization of eight novel mutations.
Holleboom AG et al.
Human Mutation, 2011
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