Article
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
Proceedings of the National Academy of Sciences of the United States of America - 29 Mar 1994
Anderson R A, Byrum R S, Coates P M, Sando G N
Abstract excerpt
The genomic sequences encoding the human lysosomal acid lipase/cholesteryl esterase (sterol esterase; EC 3.1.1.13) have been isolated and sequenced, and the information has been used to identify mutations in both alleles of the gene from a patient with Wolman disease, an autosomal recessive lysos...
Topics
- Amino Acid Sequence
- Base Sequence
- Exons
- Fetus
- Genes
- Genome, Human
- Genomic Library
- Humans
- Lysosomes
- Male
- Molecular Sequence Data
- Mutation
- Phenotype
- Polymerase Chain Reaction
- Sequence Analysis, DNA
- Sterol Esterase
- Transcription, Genetic
- Wolman Disease