Article
Isolation of the canine alpha-L-fucosidase cDNA and definition of the fucosidosis mutation in English Springer Spaniels.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Apr 1996
Occhiodoro T, Anson D S
Abstract excerpt
Fucosidosis is a lysosomal storage disorder caused by deficiency of alpha-L-fucosidase. A biochemically and clinically well characterized canine model of fucosidosis exists in a colony of English Springer Spaniels. To facilitate its use as a model for gene therapy and enzyme replacement therapy i...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- DNA Primers
- DNA, Complementary
- Disease Models, Animal
- Dogs
- Female
- Fucosidosis
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Pedigree
- Rats
- Species Specificity
- alpha-L-Fucosidase
