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X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia. Italian XLA Collaborative Group.

BACKGROUND: The diagnosis of X-linked agammaglobulinemia (XLA) is not always clearcut. Not all XLA conform to the classic phenotype and less than 50% of affected boys have a family history of immunodeficiency. Mutations in the gene for Bruton's tyrosine kinase (BTK) are responsible for the majo...

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Main Authors: Moschese, V., Orlandi, P., Plebani, A., Arvanitidis, K., Fiorini, M., Speletas, M., Mella, P., Ritis, K., Sideras, P., Finocchi, A., Livadiotti, S., Rossi, P.
Formato: Artigo
Idioma:Inglês
Publicado: 2000
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1949935/
https://ncbi.nlm.nih.gov/pubmed/10859027
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