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...

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Detalles Bibliográficos
Autores principales: Petrova, Guergana, Yaneva, Nadezhda, Hrbková, Jana, Libik, Malgorzata, Savov, Alexey, Macek, Milan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
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

Internet

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

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