A mutation in the 5' untranslated region of the human alpha-galactosidase A gene in high-activity variants inhibits specific protein binding.

doi:10.1016/0014-5793(95)00891-c

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Article

A mutation in the 5' untranslated region of the human alpha-galactosidase A gene in high-activity variants inhibits specific protein binding.

FEBS letters - 4 Sept 1995

Saifudeen Z, Desnick R J, Ehrlich M

Abstract excerpt

Recently, normal individuals were identified who had high levels of plasma alpha-galactosidase A activity and a G to A transition in the 5' untranslated (5' UT) region of the alpha-galactosidase A gene. Electrophoretic mobility shift assays revealed that the wild-type sequence at the site of this...

Topics

Base Sequence
Binding Sites
Binding, Competitive
Cell Line
DNA
HeLa Cells
Humans
Molecular Sequence Data
Mutation
NF-kappa B
Nuclear Proteins
Promoter Regions, Genetic
Protein Binding
alpha-Galactosidase

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