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Identification of 99% of CFTR gene mutations in Bulgarian‐, Bulgarian Turk‐, and Roma cystic fibrosis patients
BACKGROUND: The spectrum and frequencies of CFTR mutations causing Cystic fibrosis (CF) varies among different populations in Europe, and beyond. METHODS: We identified 98.9% of all CFTR mutations in a representative cohort of 140 CF patients comprising 107 Bulgarian‐ (BG), 17 BG Turk‐, and 16 BG Ro...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687650/ https://www.ncbi.nlm.nih.gov/pubmed/31245908 http://dx.doi.org/10.1002/mgg3.696 |