Identification of nonsense variants in the ATM gene mimicking SCID phenotype: a brief report.
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| Title: | Identification of nonsense variants in the ATM gene mimicking SCID phenotype: a brief report. |
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| Authors: | Firtina S; Department of Medical Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Turkey., Saritas M; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Vakıf Gureba Cad. No:69, Fatih, Istanbul, 34093, Turkey.; Department of Molecular Biology and Genetics, Faculty of Life and Natural Sciences, Abdullah Gul University, Kayseri, Turkey., Ng YY; Department of Genetics and Bioengineering, Istanbul Bilgi University, Istanbul, Turkey., Nepesov S; Department of Pediatrics Allergy and Immunology, Medicine Faculty, Istanbul, Turkey., Kiykim A; Department of Pediatrics Allergy and Immunology, Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey., Bozkurt S; Division of Pediatric Allergy and Immunology, Marmara University School of Medicine, Istanbul, Turkey., Bilgic-Eltan S; Division of Pediatric Allergy and Immunology, Marmara University School of Medicine, Istanbul, Turkey., Ng OH; Department of Medical Biology, School of Medicine, Acıbadem Mehmet Ali Aydınlar University, Istanbul, Turkey., Sayitoglu M; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Vakıf Gureba Cad. No:69, Fatih, Istanbul, 34093, Turkey. mugeay@istanbul.edu.tr. |
| Source: | Immunologic research [Immunol Res] 2025 May 16; Vol. 73 (1), pp. 82. Date of Electronic Publication: 2025 May 16. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Humana Press Country of Publication: United States NLM ID: 8611087 Publication Model: Electronic Cited Medium: Internet ISSN: 1559-0755 (Electronic) Linking ISSN: 0257277X NLM ISO Abbreviation: Immunol Res Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1559-0755 |
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| DOI: | 10.1007/s12026-025-09638-1 |
