Journal
MOLECULAR IMMUNOLOGY
Volume 45, Issue 1, Pages 301-303Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.molimm.2007.07.005
Keywords
X-linked agammaglobulinemia; Bruton's tyrosine kinase; missense mutation; SH3 domain
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A first report of an XLA patient with a polymorphism in Btk SH3 domain has been identified after sequenc ing of the entire gene. SH3 domain variants might not be detected due to well characterized mutations outside the domain. (C) 2007 Elsevier Ltd. All rights reserved.
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