Complement Factor I deficiency: A novel homozygous gene mutation
Complement Factor I deficiency is a very rare autosomal recessive disease, with only 38 cases reported in the literature. It is caused by a homozygous mutation in the CFI gene (complement Factor I), which encodes for the Factor I protein, an important regulator of the complement system. Clinically,...
Guardat en:
| Autors principals: | , , , , |
|---|---|
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
SAGE Publishing
2022-06-01
|
| Col·lecció: | SAGE Open Medical Case Reports |
| Accés en línia: | https://doi.org/10.1177/2050313X221105992 |
| Etiquetes: |
Sense etiquetes, Sigues el primer a etiquetar aquest registre!
|