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Rapid genome sequencing identifies novel variants in complement factor I

Complement factor I deficiency (CFID; OMIM #610984) is a rare immunodeficiency caused by deficiencies in the serine protease complement factor I (CFI). CFID is characterized by predisposition to severe pneumococcal infection, often in infancy. We report a previously healthy adolescent male who prese...

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Detalles Bibliográficos
Autores principales:	Rodriguez, Katherine M., Vaught, Jordan, Dilley, Michelle, Ellsworth, Kataryzna, Heinen, Alaina, Abud, Edsel M., Zhang, Yuzhou, Smith, Richard J.H., Sheets, Robert, Geng, Bob, Hoffman, Hal M., Worthen, H. Michael, Dimmock, David, Coufal, Nicole G.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cold Spring Harbor Laboratory Press 2022
Materias:	Rapid Communication
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9808552/ https://www.ncbi.nlm.nih.gov/pubmed/36577522 http://dx.doi.org/10.1101/mcs.a006239

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