dc.contributor.author | Yuksel, Adnan | |
dc.contributor.author | Ozen, Mustafa | |
dc.contributor.author | Barlan, Isil B. | |
dc.contributor.author | Chatila, Talal A. | |
dc.contributor.author | Karaca, Ender | |
dc.contributor.author | Karakoc-Aydiner, Elif | |
dc.contributor.author | Bayrak, Omer Faruk | |
dc.contributor.author | Keles, Sevgi | |
dc.contributor.author | Sevli, Serhat | |
dc.date.accessioned | 2021-03-04T10:20:26Z | |
dc.date.available | 2021-03-04T10:20:26Z | |
dc.date.issued | 2013 | |
dc.identifier.citation | Karaca E., Karakoc-Aydiner E., Bayrak O. F. , Keles S., Sevli S., Barlan I. B. , Yuksel A., Chatila T. A. , Ozen M., "Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder", GENE, cilt.512, sa.2, ss.189-193, 2013 | |
dc.identifier.issn | 0378-1119 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_6caef3e7-feda-4d75-8e39-ae630b7bf6a4 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/75120 | |
dc.identifier.uri | https://doi.org/10.1016/j.gene.2012.10.062 | |
dc.description.abstract | Protein tyrosine kinases (PTKs) play an important role in T cell development and activation. In vitro and in vivo defects, resulting in variable deficiencies in thymic development and in T cell antigen receptor (TCR) signal transduction, in PTKs have been shown. ZAP70, one of those PTKs, is a 70-kDa tyrosine phosphoprotein and associates with the chain zeta and undergoes tyrosine phosphorylation following TCR stimulation. It is expressed in T and natural killer (NK) cells. Several mutations were shown to lead to an autosomal recessive form of severe combined immunodeficiency disease (SCID). | |
dc.language.iso | eng | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Tıp | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Yaşam Bilimleri | |
dc.title | Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder | |
dc.type | Makale | |
dc.relation.journal | GENE | |
dc.contributor.department | Marmara Üniversitesi , , | |
dc.identifier.volume | 512 | |
dc.identifier.issue | 2 | |
dc.identifier.startpage | 189 | |
dc.identifier.endpage | 193 | |
dc.contributor.firstauthorID | 58610 | |