Article
A Gln-281 to Arg substitution in alpha-L-fucosidase is responsible for a common polymorphism detected by isoelectric focusing.
Human genetics - 1 May 1994
Yang M, DiCioccio R A
Abstract excerpt
A common polymorphism of human alpha-L-fucosidase consists of three phenotypes (Fu 1, Fu 2, and Fu 2-1) assigned by isoelectric focusing. The phenotypes are determined by two codominant alleles (Fu1 and Fu2). Isozymes with the Fu 2 phenotype have more basic pI than Fu 1, while Fu 2-1 is a mixture...
Topics
- Animals
- Arginine
- Base Sequence
- Cell Line, Transformed
- Cells, Cultured
- DNA Primers
- Fibroblasts
- Fucosidosis
- Glutamine
- Humans
- Isoelectric Focusing
- Isoenzymes
- Molecular Sequence Data
- Phenotype
- Point Mutation
- Polymorphism, Genetic
- Transfection
- alpha-L-Fucosidase