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Novel pathogenic mutations identified in the first Chinese pedigree of complete C6 deficiency

OBJECTIVES: Complete C6 deficiency (C6Q0) is a rare primary immunodeficiency leading to increased susceptibility to recurrent Neisseria infections. Patients with C6Q0 have mostly been reported in individuals of African ancestry previously, but never in Chinese. We identify the first Chinese patients...

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Detalles Bibliográficos
Autores principales:	Li, Philip H, Wong, William WY, Leung, Evelyn NY, Lau, Chak‐sing, Au, Elaine
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2020
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7343556/ https://www.ncbi.nlm.nih.gov/pubmed/32670577 http://dx.doi.org/10.1002/cti2.1148

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