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Mol Immunol. 2008 Jan;45(1):301-3. Epub 2007 Aug 20.

Identification of novel non-pathogenic mutation in SH3 domain of Btk in an XLA patient.

Abstract

A first report of an XLA patient with a polymorphism in Btk SH3 domain has been identified after sequencing of the entire gene. SH3 domain variants might not be detected due to well characterized mutations outside the domain.

PMID:
17707910
DOI:
10.1016/j.molimm.2007.07.005
[PubMed - indexed for MEDLINE]
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