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,...
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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
SAGE Publishing
2022-06-01
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| Serie: | SAGE Open Medical Case Reports |
| Accesso online: | https://doi.org/10.1177/2050313X221105992 |
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