Wird geladen...
Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype– phenotype correlations
Fabry disease (FD) is a rare X-linked glycosphingolipidosis resulting from deficient α-galactosidase A (AGAL) activity, caused by pathogenic mutations in the GLA gene. In males, the multisystemic involvement and the severity of tissue injury are critically dependent on the level of AGAL residual enz...
Gespeichert in:
| Veröffentlicht in: | Appl Clin Genet |
|---|---|
| Hauptverfasser: | , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Dove Medical Press
2019
|
| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6407513/ https://ncbi.nlm.nih.gov/pubmed/30881085 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S146022 |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|