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

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• 作者：Rebeca P&#xe9 ; rez de Diego ; Jeró ; nimo Bravo ; Luis M. Allende ; Eduardo Ló ; pez-Granados ; Jos&#xe9 ; Rivera ; Antonio Ferreira ; Gumersindo Font&#xe1 ; n ; M Cruz Garc&#xed ; a Rodr&#xed ; guez
• 关键词：X-linked agammaglobulinemia ; Bruton's tyrosine kinase ; Missense mutation ; SH3 domain
• 刊名：Molecular Immunology
• 出版年：2008
• 期刊代码：112_01615890
• 类别：bio
• 出版时间：January 2008
• 卷：45
• 期：1
• 页码：301-303
• 文件大小：209 K

摘要

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.