Cargando…
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...
| Autores principales: | , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732343/ https://www.ncbi.nlm.nih.gov/pubmed/31321922 http://dx.doi.org/10.1002/mgg3.864 |