Browsing Makale by Author "1041002"
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Mutational landscape of severe combined immunodeficiency patients from Turkey. Sayar, Eh; Firtina, S; Yin, Ng; Hatirnaz, Ng; Kiykim, A; Aydiner, E; Nepesov, S; Camcioglu, Y; Reisli, I; Cogurlu, T; Uygun, D; Simsek, Ie; Kaya, A; Cipe, F; Cagdas, D; Cekic, S; Uygun, V; Baris, S; Ozen, A; Ozbek, U; Sayitoglu, Müge; Torun, Selda; Yucel, EsraSevere 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 ...