Evaluation of clinical and genetic characteristics of cystic fibrosis patients in the Southeastern Anatolia of Turkey
This study elucidates the diverse nature of CFTR mutations in the Turkish population. The heterogenous genetic pool of the Southeastern Anatolia region is more similar to Mesopotamia than to other regions of our country, and receives immigration from the East. Detection and reporting of novel mutations and CFTR mutations that occur at very low frequencies from different populations living in various geographical areas are essential for identifying modulatory medicines that cover a broader range of mutations and also help genetic diagnosis of CF in newborn screening.
Authors
- Suat Savaş (ORCID: https://orcid.org/0000-0002-2733-7194)
- Elif Arık (ORCID: https://orcid.org/0000-0002-7319-8535)
- İlkay Doğan (ORCID: https://orcid.org/0000-0001-7552-6478)
- Ercan Küçükosmanoğlu (ORCID: https://orcid.org/0000-0002-1824-2038)
- Mahmut Cesur (ORCID: https://orcid.org/0000-0001-9260-7587)
- Melih Hangül (ORCID: https://orcid.org/0000-0001-6226-0340)
- Velat Şen (ORCID: https://orcid.org/0000-0002-8411-4499)
- Sibel Oğuzkan Balcı (ORCID: https://orcid.org/0000-0003-0537-3028)
- Murat Korkmaz (ORCID: https://orcid.org/0000-0001-6775-8033)
- Özlem Keskin (ORCID: https://orcid.org/0000-0002-3061-7832)
- Hadice Selimoğlu Şen (ORCID: https://orcid.org/0000-0002-2597-6646)
Institutions
- Dicle University (TR)
- Gaziantep Children's Hospital (TR)
- Gaziantep University (TR)
Publication Details
- Journal
- Pediatrics International
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1111/ped.70197
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00