Article
A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease.
Human mutation - 1 Jan 1998
Redonnet-Vernhet I, Chatelut M, Salvayre R, Levade T
Abstract excerpt
The molecular defects in the gene encoding the lysosomal acid lipase (LAL) were investigated in an adult male patient affected with cholesteryl ester storage disease (CESD), an autosomal recessive disorder associated with LAL deficient activity. Nucleotide sequencing of amplified LAL genomic DNA...
Topics
- Adult
- Cholesterol Ester Storage Disease
- Exons
- Heterozygote
- Humans
- Lipase
- Lysosomes
- Male
- Middle Aged
- Mutation
- Point Mutation
- RNA Splicing
- RNA, Messenger