Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease
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England: Nature Publishing Group
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English
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England: Nature Publishing Group
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The efficacy of pharmacological chaperone therapy for Fabry disease depends on the type of α-galactosidase A (GLA) mutations. Here, we examined the mutation spectrum of the GLA gene among patients from 115 Japanese families with Fabry disease. Of these, no pathogenic mutations were identified in six families (5.2%). In total, 73 different disease-c...
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Full title
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease
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TN_cdi_proquest_miscellaneous_2210253878
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2210253878
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ISSN
1434-5161,1435-232X
E-ISSN
1435-232X
DOI
10.1038/s10038-019-0599-z
