Article
New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease.
Journal of lipid research - 1 Jul 1998
Pagani F, Pariyarath R, Garcia R, Stuani C, Burlina A B, Ruotolo G, Rabusin M, Baralle F E
Abstract excerpt
Deficiency of lysosomal acid lipase (LAL) leads to either Wolman disease (WD) or the more benign cholesteryl ester storage disease (CESD). To identify the molecular basis of the different phenotypes we have characterised the LAL gene mutations in three new patients with LAL deficiency. A patient...
Topics
- Amino Acid Substitution
- Base Sequence
- Child
- Cholesterol Ester Storage Disease
- Exons
- Female
- Genetic Variation
- Humans
- Infant
- Lipase
- Lysosomes
- Male
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Sequence Deletion
- Wolman Disease