Article
Bruton tyrosine kinase gene mutations in Argentina.
Human mutation - 1 Apr 2003
Danielian Silvia, El-Hakeh Jazmin, Basílico Guillermo, Oleastro Matías, Rosenzweig Sergio, Feldman Guillermina, Berozdnik Liliana, Galicchio Miguel, Gallardo Angela, Giraudi Vera, Liberatore Diana, Rivas Eva Maria, Zelazko Marta
Abstract excerpt
The block in differentiation from pro-B to pre-B cells results in a selective defect in the humoral immune response characteristic of human X-linked agammaglobulinemia (XLA). Mutations of Bruton tyrosine kinase (BTK) gene have been identified as the cause of XLA. Mutation detection is the most reliable method for making a definitive diagnosis, except when clinical and laboratory findings are distinctive and...
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