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Phenotype and biochemical heterogeneity in late onset Fabry disease defined by N215S mutation
BACKGROUND: Fabry disease (FD) results from X-linked inheritance of a mutation in the GLA gene, encoding for alpha galactosidase A, and is characterized by heterogeneous clinical manifestations. Two phenotypes have been described “Classic” and “late onset” which cannot be predicted exclusively by ge...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886405/ https://www.ncbi.nlm.nih.gov/pubmed/29621274 http://dx.doi.org/10.1371/journal.pone.0193550 |