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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...
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| Publicado no: | Balkan J Med Genet |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Sciendo
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6714339/ https://ncbi.nlm.nih.gov/pubmed/31523618 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2478/bjmg-2019-0009 |
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