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669.0 KB Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia : Implications for Genetic Counseling / Rivière, Jacques G.. (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Franco-Jarava, Clara (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Martínez Gallo, Mónica (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Aguiló-Cucurull, Aina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Blasco-Pérez, Laura (Hospital Universitari Vall d'Hebron) ; Paramonov, Ida (Hospital Universitari Vall d'Hebron) ; Antolín, María (Hospital Universitari Vall d'Hebron) ; Martín-Nalda, Andrea (Jeffrey Model Foundation Excellence Center) ; Soler-Palacín, Pere (Jeffrey Model Foundation Excellence Center) ; Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron) ; Universitat Autònoma de Barcelona
X-linked agammaglobulinemia (XLA) is a clinically and genetically well-defined immunodeficiency and the most common form of agammaglobulinemia. It is characterized by susceptibility to recurrent bacterial infections, profound hypogammaglobulinemia, and few or no circulating B cells. [...]
2020 - 10.3389/fimmu.2020.00046
Frontiers in immunology, Vol. 11 (february 2020)  
Detailed record - Creative Commons

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