A mutation in the 5′ untranslated region of the human α-galactosidase A gene in high-activity variants inhibits specific protein binding
Author:
Publisher
Wiley
Subject
Cell Biology,Genetics,Molecular Biology,Biochemistry,Structural Biology,Biophysics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1016/0014-5793(95)00891-C/fullpdf
Reference29 articles.
1. Signal sequence and DNA-mediated expression of human lysosomal alpha-galactosidase A
2. Nucleotide sequence of the human α-galactosidase A gene
3. Affinity purification of alpha-galactosidase A from human spleen, placenta, and plasma with elimination of pyrogen contamination. Properties of the purified splenic enzyme compared to other forms.
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3. The clinical course of hypertrophic cardiomyopathy and the role of polymorphisms in the intronic and promoter regions of the gene alpha-galactosidase A;The Scientific Notes of the I. P. Pavlov St. Petersburg State Medical University;2015-12-30
4. The Modulatory Effects of the Polymorphisms in GLA 5′-Untranslated Region Upon Gene Expression Are Cell-Type Specific;JIMD Reports;2015
5. The g.1170C>T polymorphism of the 5′ untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression—Evidence from a family study;Journal of Inherited Metabolic Disease;2008-11-03
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