A novel mutation (Cys145-->Stop) in Bruton's tyrosine kinase is associated with newly diagnosed X-linked agammaglobulinemia in a 51-year-old male.

BACKGROUND: X-linked agammaglobulinemia (XLA) is a severe, life-threatening disease characterized by failure of B cell differentiation and antibody production and is associated with mutations in Bruton's tyrosine kinase (Btk). The proband in this study is a 51-year-old male presenting with chro...

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Détails bibliographiques
Auteurs principaux: Kornfeld, S. J., Haire, R. N., Strong, S. J., Tang, H., Sung, S. S., Fu, S. M., Litman, G. W.
Format: Artigo
Langue:Inglês
Publié: The Feinstein Institute for Medical Research 1996
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2230197/
https://ncbi.nlm.nih.gov/pubmed/8898377
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