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Functional evaluation of a novel GLA causative mutation in Fabry disease
BACKGROUND: Fabry disease (FD), a rare X‐linked α‐galactosidase A (GLA) deficiency, resulting in progressive lysosomal accumulation of globotriaosylceramide in a variety of cell types. More and more disease‐causing mutations in GLA have been identified in FD due to the advancement of molecular diagn...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6732343/ https://ncbi.nlm.nih.gov/pubmed/31321922 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.864 |
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