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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | BMJ Case Rep |
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| Κύριοι συγγραφείς: | , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BMJ Publishing Group
2021
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| Θέματα: | |
| Διαθέσιμο Online: | 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 |
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