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Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia.

Recher M, Fried AJ, Massaad MJ, Kim HY, Rizzini M, Frugoni F, Walter JE, Mathew D, Eibel H, Hess C, Giliani S, Umetsu DT, Notarangelo LD, Geha RS. Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia. Clin Immunol. 2013 Feb; 146(2):84-9.

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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.