Cargando…
Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy
Fabry disease is an X-linked lysosomal storage disease resulting from a mutation in the GLA gene that encodes α-galactosidase A. The p.N215S (c.644A > G [p.Asn215Ser]) genotype is the most common later-onset variant reported in individuals of European or North American descent. It is usually refe...
| Autores principales: | , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2020
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7229279/ https://www.ncbi.nlm.nih.gov/pubmed/32435590 http://dx.doi.org/10.1016/j.ymgmr.2020.100596 |