Article
Pedigree analysis of alpha-L-fucosidase gene mutations in a fucosidosis family.
Biochimica et biophysica acta - 20 Oct 1993
Yang M, Allen H, DiCioccio R A
Abstract excerpt
Fucosidosis is an autosomal recessive lysosomal storage disease resulting from absence of alpha-L-fucosidase activity. Lymphoid cell lines from two siblings with fucosidosis and a healthy individual (control) had alpha-L-fucosidase mRNA of normal size (2.3 kb) but the level of alpha-L-fucosidase...
Topics
- B-Lymphocytes
- Base Sequence
- Cell Line
- Female
- Fucosidosis
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- RNA, Messenger
- alpha-L-Fucosidase