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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Veröffentlicht in:Clin Transl Immunology
Hauptverfasser: Li, Philip H, Wong, William WY, Leung, Evelyn NY, Lau, Chak‐sing, Au, Elaine
Format: Artigo
Sprache:Inglês
Veröffentlicht: John Wiley and Sons Inc. 2020
Schlagworte:
Online Zugang: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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