![IJMS | Free Full-Text | Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease IJMS | Free Full-Text | Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease](https://www.mdpi.com/ijms/ijms-22-06518/article_deploy/html/images/ijms-22-06518-g001.png)
IJMS | Free Full-Text | Human α-Galactosidase A Mutants: Priceless Tools to Develop Novel Therapies for Fabry Disease
![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 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](https://ars.els-cdn.com/content/image/1-s2.0-S0009898118300822-fx1.jpg)
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
![Alignment of gene sequences. Portion of the sequence of exon 3 of the... | Download Scientific Diagram Alignment of gene sequences. Portion of the sequence of exon 3 of the... | Download Scientific Diagram](https://www.researchgate.net/publication/259626313/figure/fig1/AS:214281967673345@1428100210787/Alignment-of-gene-sequences-Portion-of-the-sequence-of-exon-3-of-the-GLA-gene-in-Patient.png)
Alignment of gene sequences. Portion of the sequence of exon 3 of the... | Download Scientific Diagram
![Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns | Journal of Human Genetics Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns | Journal of Human Genetics](https://media.springernature.com/lw685/springer-static/image/art%3A10.1038%2Fjhg.2010.58/MediaObjects/10038_2010_Article_BFjhg201058_Fig2_HTML.jpg)
Mutations of the GLA gene in Korean patients with Fabry disease and frequency of the E66Q allele as a functional variant in Korean newborns | Journal of Human Genetics
![Different possible methods to analyze allele-specific methylation at... | Download Scientific Diagram Different possible methods to analyze allele-specific methylation at... | Download Scientific Diagram](https://www.researchgate.net/publication/348990825/figure/fig1/AS:987576857022465@1612468079428/Different-possible-methods-to-analyze-allele-specific-methylation-at-GLA-gene-Schematic.png)
Different possible methods to analyze allele-specific methylation at... | Download Scientific Diagram
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
![Mutation p.M51I: (a) HRM analysis of exon 1 of the GLA gene in male... | Download Scientific Diagram Mutation p.M51I: (a) HRM analysis of exon 1 of the GLA gene in male... | Download Scientific Diagram](https://www.researchgate.net/publication/275344002/figure/fig3/AS:1086805982097418@1636126146274/Mutation-pM51I-a-HRM-analysis-of-exon-1-of-the-GLA-gene-in-male-patients-curves.jpg)
Mutation p.M51I: (a) HRM analysis of exon 1 of the GLA gene in male... | Download Scientific Diagram
![Sanger sequencing of exon 6 of the GLA gene. (a) Normal control showing... | Download Scientific Diagram Sanger sequencing of exon 6 of the GLA gene. (a) Normal control showing... | Download Scientific Diagram](https://www.researchgate.net/publication/366709020/figure/fig2/AS:11431281110433870@1672532422529/Sanger-sequencing-of-exon-6-of-the-GLA-gene-a-Normal-control-showing-wild-type-WT.jpg)
Sanger sequencing of exon 6 of the GLA gene. (a) Normal control showing... | Download Scientific Diagram
![Genotyping of the GLA gene in heterozygous females: A. Patient CB, a... | Download Scientific Diagram Genotyping of the GLA gene in heterozygous females: A. Patient CB, a... | Download Scientific Diagram](https://www.researchgate.net/publication/49623451/figure/fig26/AS:281151630528516@1444043180201/Genotyping-of-the-GLA-gene-in-heterozygous-females-A-Patient-CB-a-17-year-old-girl.png)
Genotyping of the GLA gene in heterozygous females: A. Patient CB, a... | Download Scientific Diagram
![a Alignment of gene sequences. Portion of the sequence of exon 6 of the... | Download Scientific Diagram a Alignment of gene sequences. Portion of the sequence of exon 6 of the... | Download Scientific Diagram](https://www.researchgate.net/publication/341324466/figure/fig3/AS:890416996048918@1589303363910/a-Alignment-of-gene-sequences-Portion-of-the-sequence-of-exon-6-of-the-GLA-gene-in-the.png)
a Alignment of gene sequences. Portion of the sequence of exon 6 of the... | Download Scientific Diagram
![Current and experimental therapeutics for Fabry disease - Castelli - 2021 - Clinical Genetics - Wiley Online Library Current and experimental therapeutics for Fabry disease - Castelli - 2021 - Clinical Genetics - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/693a36bd-d41c-4422-98a3-41893a1aa3d6/cge13999-fig-0001-m.jpg)
Current and experimental therapeutics for Fabry disease - Castelli - 2021 - Clinical Genetics - Wiley Online Library
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