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Clinical Outcome and Underlying Genetic Cause of Functional Terminal Complement Pathway Deficiencies in a Multicenter UK Cohort

BACKGROUND: Terminal complement pathway deficiencies often present with severe and recurrent infections. There is a lack of good-quality data on these rare conditions. This study investigated the clinical outcome and genetic variation in a large UK multi-center cohort with primary and secondary term...

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Detalles Bibliográficos
Autores principales: Shears, Annalie, Steele, Cathal, Craig, Jamie, Jolles, Stephen, Savic, Sinisa, Hague, Rosie, Coulter, Tanya, Herriot, Richard, Arkwright, Peter D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8793329/
https://www.ncbi.nlm.nih.gov/pubmed/35084692
http://dx.doi.org/10.1007/s10875-022-01213-9