Cystic Fibrosis Mutation Spectrum in North Macedonia: A Step Toward Personalized Therapy

The most prevalent "rare" disease worldwide, cystic fibrosis (CF), is an autosomal recessive multisystem disease, caused by mutations in the CFTR gene. The knowledge of CFTR mutations present in certain population is important for designing a simple, fast and cost-effective genetic testing...

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Detalles Bibliográficos
Autores principales: Terzic, M, Jakimovska, M, Fustik, S, Jakovska, T, Sukarova-Stefanovska, E, Plaseska-Karanfilska, D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714339/
https://www.ncbi.nlm.nih.gov/pubmed/31523618
http://dx.doi.org/10.2478/bjmg-2019-0009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714339/
https://www.ncbi.nlm.nih.gov/pubmed/31523618
http://dx.doi.org/10.2478/bjmg-2019-0009

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