Condition: Cholesterol Ester Storage Disease


rs116928232 in LIPA gene and Cholesterol Ester Storage Disease PMID 22227072 2012 Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.

PMID 8254026 1993 A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.