Structure and sequence of the human alpha-L-fucosidase gene and pseudogene.

doi:10.1016/0888-7543(92)90374-2

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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 t...

Topics

Base Sequence
Chromosome Mapping
DNA
Exons
Fucosidosis
Genes, Regulator
Humans
Introns
Molecular Sequence Data
Mutation
Pseudogenes
alpha-L-Fucosidase

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