Načítá se...
Novel GLA T194A variant causes Fabry disease
Fabry disease (FD) is an X-linked, systemic lysosomal deposition disease caused by alpha-galactosidase A (AGAL) enzyme deficiency deriving out of changes on the GLA gene. Though several mutations have been described, one must consider that even a specific mutation may present with variable clinical...
Uloženo v:
| Vydáno v: | BMJ Case Rep |
|---|---|
| Hlavní autoři: | , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
BMJ Publishing Group
2021
|
| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7929876/ https://ncbi.nlm.nih.gov/pubmed/33649041 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-239204 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|