Novel mutations in hyper‐IgM syndrome type 2 and X‐linked agammaglobulinemia detected in three patients with primary immunodeficiency disease

BACKGROUND: Ambiguous or atypical phenotypes can make a definite diagnosis of primary immunodeficiency diseases based on biochemical indices alone challenging. Further, mortality in early life because of infections in patients with these conditions supports the use of genetic tests to facilitate rap...

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Detalles Bibliográficos
Autores principales: Chen, Xihui, Liu, Fangfang, Yuan, Lijuan, Zhang, Meng, Chen, Kun, Wu, Yuanming
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/PMC7963428/
https://www.ncbi.nlm.nih.gov/pubmed/33377626
http://dx.doi.org/10.1002/mgg3.1552

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