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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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Balkan J Med Genet
Egile Nagusiak: Terzic, M, Jakimovska, M, Fustik, S, Jakovska, T, Sukarova-Stefanovska, E, Plaseska-Karanfilska, D
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Sciendo 2019
Gaiak:
Sarrera elektronikoa: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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