Large‐scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency
Author:
Affiliation:
1. Strategy, Program Management and Data Science Department Alexion Pharmaceuticals Inc. Boston Massachusetts
2. Research Department Alexion Pharmaceuticals Inc. Boston Massachusetts
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23837
Reference46 articles.
1. Predicting Functional Effect of Human Missense Mutations Using PolyPhen‐2
2. Genetic and Biochemical Evidence That CESD and Wolman Disease Are Distinguished by Residual Lysosomal Acid Lipase Activity
3. Lysosomal acid lipase deficiency is associated with premature death in children and adults
4. Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease
5. The global prevalence and genetic spectrum of lysosomal acid lipase deficiency: A rare condition that mimics NAFLD
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