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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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Dades bibliogràfiques
Publicat a:Clin Transl Immunology
Autors principals: Li, Philip H, Wong, William WY, Leung, Evelyn NY, Lau, Chak‐sing, Au, Elaine
Format: Artigo
Idioma:Inglês
Publicat: John Wiley and Sons Inc. 2020
Matèries:
Accés en línia: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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