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Name of the disease (synonyms) Fabry disease, Anderson-Fabry disease. OMIM# of the disease 301500. Name of the analysed gene(s) or DNA/chromosome segments Alpha-galactosidase A, GLA. OMIM# of the gene(s) 300644.… Click to show full abstract
Name of the disease (synonyms) Fabry disease, Anderson-Fabry disease. OMIM# of the disease 301500. Name of the analysed gene(s) or DNA/chromosome segments Alpha-galactosidase A, GLA. OMIM# of the gene(s) 300644. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in the GLA gene in diagnostic, predictive and prenatal settings for Fabry disease and for risk assessment in patients’ relatives.
Keywords:
clinical utility;
utility gene;
fabry disease;
disease
Journal Title: European Journal of Human Genetics
Year Published: 2017
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Journal Title: European Journal of Human Genetics
Year Published: 2017
Link to full text (if available)
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recommendations!