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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Sciendo
2019
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| Materias: | |
| 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 |