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Silent Allele As Genetic Basis of Fucosidosis

Overview
Journal Nature
Specialty Science
Date 1975 Oct 2
PMID 1178039
Citations 13
Authors
B M Turner
N G Beratis
V S Turner
K Hirschhorn
Affiliations
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A Gln-281 to Arg substitution in alpha-L-fucosidase is responsible for a common polymorphism detected by isoelectric focusing.

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Human neutral alpha-glucosidase C: genetic polymorphism including a "null" allele.

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Specific activity of alpha-L-fucosidase in sera with phenotypes of either low, intermediate, or high total enzyme activity and in a fucosidosis serum.

DiCioccio R, Barlow J, Matta K Biochem Genet. 1986; 24(1-2):115-30.

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