Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease.

doi:10.1093/hmg/5.10.1611

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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 e...

Topics

Child
Child, Preschool
Cholesterol Ester Storage Disease
HeLa Cells
Heterozygote
Humans
Lipase
Male
Mutation
Polymorphism, Genetic
Sequence Analysis

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