Complement factor I deficiency: a not so rare immune defect. Characterization of new mutations and the first large gene deletion

BACKGROUND: Complement Factor I (CFI) is a serine protease with an important role in complement alternative pathway regulation. Complete factor I deficiency is strongly associated with severe infections. Approximately 30 families with this deficiency have been described worldwide. PATIENTS AND METHO...

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Detalhes bibliográficos
Main Authors: Alba-Domínguez, María, López-Lera, Alberto, Garrido, Sofía, Nozal, Pilar, González-Granado, Ignacio, Melero, Josefa, Soler-Palacín, Pere, Cámara, Carmen, López-Trascasa, Margarita
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3458969/
https://ncbi.nlm.nih.gov/pubmed/22710145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-7-42
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