Article
Mutational landscape of severe combined immunodeficiency patients from Turkey.
International journal of immunogenetics - 1 Dec 2020
Firtina Sinem, Yin Ng Yuk, Hatirnaz Ng Ozden, Kiykim Ayca, Aydiner Elif, Nepesov Serdar, Camcioglu Yildiz, Sayar Esra H, Reisli Ismail, Torun Selda H, Cogurlu Tuba, Uygun Dilara, Simsek Isil E, Kaya Aysenur, Cipe Funda, Cagdas Deniz, Yucel Esra, Cekic Sukru, Uygun Vedat, Baris Safa, Ozen Ahmet, Ozbek Ugur, Sayitoglu Muge
Abstract excerpt
Severe combined immunodeficiency (SCID) has a diverse genetic aetiology, where a clinical phenotype, caused by single and/or multiple gene variants, can give rise to multiple presentations. The advent of next-generation sequencing (NGS) has recently enabled rapid identification of the molecular aetiology of SCID, which is crucial for prognosis and treatment strategies. We sought to identify the genetic aetiology...
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