Article
Structure and sequence of the human alpha-L-fucosidase gene and pseudogene.
Genomics - 1 Feb 1992
Kretz K A, Cripe D, Carson G S, Fukushima H, O'Brien J S
Abstract excerpt
Fucosidosis is a rare lysosomal storage disease resulting from a nearly complete deficiency of alpha-L-fucosidase enzyme activity. Previously, cDNA encoding human fucosidase was cloned and sequenced. Here we report the determination of the human fucosidase gene structure and sequence as well as the sequence of the fucosidase pseudogene. The gene encoding fucosidase is composed of eight exons spanning 23 kb of...
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