The Large Phenotypic Spectrum of Fabry Disease Requires Graduated Diagnosis and Personalized Therapy: A Meta-Analysis Can Help to Differentiate Missense Mutations
Fabry disease is caused by mutations in the GLA gene and is characterized by a large genotypic and phenotypic spectrum. Missense mutations pose a special problem for graduating diagnosis and choosing a cost-effective therapy. Some mutants retain enzymatic activity, but are less stable than the wild...
| Main Authors: | , , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
MDPI
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5187810/ |