Article
Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease.
Human molecular genetics - 1 Oct 1996
Pagani F, Garcia R, Pariyarath R, Stuani C, Gridelli B, Paone G, Baralle F E
Abstract excerpt
Lysosomal acid lipase (LAL) gene mutations were identified in three patients with cholesteryl ester storage disease (CESD). Direct sequencing of genomic DNA revealed that: patient 1 was a compound heterozygote for a P181L mutation and an A to G3' splice site substitution that causes skipping of exon 7, with a loss of 49 amino acids from LAL (delta 205-253); patient 2 was a compound heterozygote for a G66V...
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