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.

journal_name

Mol Immunol

journal_title

Molecular immunology

authors

Pérez de Diego R,Bravo J,Allende LM,López-Granados E,Rivera J,Ferreira A,Fontán G,García Rodríguez MC

doi

10.1016/j.molimm.2007.07.005

subject

Has Abstract

pub_date

2008-01-01 00:00:00

pages

301-3

issue

1

eissn

0161-5890

issn

1872-9142

pii

S0161-5890(07)00629-3

journal_volume

45

pub_type

信件
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    doi:10.1016/0161-5890(82)90257-7

    authors: Horng WJ,Roux KH,Gilman-Sachs A,Dray S

    更新日期:1982-01-01 00:00:00