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DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile

Defects in DNA Recombination due to mutations in RAG1/2 or DCLRE1C result in combined immunodeficiency (CID) with a range of disease severity. We present the clinical, immunologic and molecular characteristics of 21 patients with defects in RAG1, RAG2 or DCLRE1C, who accounted for 24% of combined im...

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Detalles Bibliográficos
Autores principales: Al-Herz, Waleed, Massaad, Michel J., Chou, Janet, Notarangelo, Luigi D., Geha, Raif S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5826831/
https://www.ncbi.nlm.nih.gov/pubmed/29051008
http://dx.doi.org/10.1016/j.clim.2017.10.006