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pro vyhledávání: '"Igor Vorřechovský"'
Autor:
A. David B. Webster, Roberto Paganelli, Timo Klemola, Stig S. Frøland, Liping Luo, Maurilia Fiorini, Jens Michael Hertz, C. I. Edvard Smith, Lennart Hammarström, Igor Vorřechovský, Hulya Ozsahin, Isabella Quinti
Publikováno v:
Human Mutation. 9:418-425
Mutation pattern was characterized in the Bruton's tyrosine kinase gene (BTK) in 26 patients with X-linked agammaglobulinemia, the first described immunoglobulin deficiency, and was related to BTK expression. A total of 24 different mutations were id