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.