Associated Papers
Pedigree Analysis of Nonclassical Cholesteryl Ester Storage Disease with Dominant Inheritance in a LIPA I378T Heterozygous Carrier.
Zhang JH et al.
Digestive Diseases and Sciences, 2024
The novel synonymous variant in LIPA gene affects splicing and causes lysosomal acid lipase deficiency.
Bychkov IO et al.
Molecular Genetics and Metabolism, 2019
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