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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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Detalhes bibliográficos
Publicado no:Clin Transl Immunology
Main Authors: Li, Philip H, Wong, William WY, Leung, Evelyn NY, Lau, Chak‐sing, Au, Elaine
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7343556/
https://ncbi.nlm.nih.gov/pubmed/32670577
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/cti2.1148
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