Article
A mutation generating a stop codon in the alpha-L-fucosidase gene of a fucosidosis patient.
Biochemical and biophysical research communications - 15 Dec 1992
Yang M, Allen H, DiCioccio R A
Abstract excerpt
Fucosidosis is an autosomal recessive, lysosomal storage disease featured by deficient activity of alpha-L-fucosidase. Lymphoid cell lines from a fucosidosis patient (JT) and a healthy individual (control) contained alpha-L-fucosidase mRNA of the same size, 2.3 Kb, as determined by Northern blot...
Topics
- B-Lymphocytes
- Base Sequence
- Cell Line
- Codon
- DNA
- Fucosidosis
- Genes, Recessive
- Humans
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Poly A
- Polymerase Chain Reaction
- RNA
- RNA, Messenger
- Reference Values
- alpha-L-Fucosidase