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
Author:
Funder
Italian Ministry of Health
Fondazione Meyer ONLUS, Firenze, Italia
Publisher
Elsevier BV
Subject
Biochemistry, medical,Clinical Biochemistry,Biochemistry,General Medicine
Reference37 articles.
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3. X-chromosome inactivation in female patients with Fabry disease;Echevarria;Clin. Genet.,2016
4. The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies;Ferreira;Mol. Genet. Metab.,2015
5. Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene;Ferri;Clin. Genet.,2012
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3. Identification of dual active sites in Caenorhabditis elegans GANA-1 protein: an ortholog of the human α-GAL a and α-NAGA enzymes;Journal of Biomolecular Structure and Dynamics;2022-06-11
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