Articles on Artemis

1 articles published in Selcuk Medical Journal with the keyword "Artemis": Identification of the Mutation in DCLRE1C Gene by PCR-RFLP

IDENTIFICATION OF THE MUTATION IN DCLRE1C GENE BY PCR-RFLP

MEHMET ALİ KARASELEK, SERKAN KÜÇÜKTÜRK, HASAN KAPAKLI, ESRA HAZAR, ŞÜKRÜ NAIL GÜNER, SEVGI KELEŞ, ERCAN KURAR, İSMAIL REISLI

2023, Vol 39, Issue 1, Page 24-28

Aim: Mutations in the DCLRE1C gene result in functional impairment of the Artemis protein and T/B cell development is adversely affected. As a result of this mutation, a clinic of severe combined and combined immunodeficiency (CID) generally occurs. In our region where consanguineous marriage is...

Related Keywords

DCLRE1C PZR-RFLP PCR-RFLP