Associated Papers
Novel tools for extraction and validation of disease-related mutations applied to Fabry disease.
Kuipers R et al.
Human Mutation, 2010
20629180 (PubMed )
Supplement: supplement_1.pdf
The functional role of glutamine-280 and threonine-282 in human alpha-galactosidase.
Ishii S et al.
Biochimica Et Biophysica Acta, 1995
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