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Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ - ScienceDirect
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IJMS | Free Full-Text | Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease
Fabry Awareness Month | #FabryFacts Did you know that there are more than 965 different mutations of the GLA gene that can cause Fabry disease? # Genetic testing can identify... | By CENTOGENE | Facebook
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