Large‐scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency
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DOI: 10.1002/humu.23837
Abstract: Lysosomal acid lipase (LAL) deficiency is an autosomal recessive disorder caused by LIPA gene mutations that disrupt LAL activity. We performed in vitro functional testing of 149 LIPA variants to increase the understanding of the… read more here.
Keywords: prevalence estimates; lysosomal acid; prevalence; acid lipase ... See more keywords