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 of Fu 2 and Fu 1. Recently, a missense mutation (A860-->G) in the alpha-L-fucosidase gene was described that did not...
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