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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Detaylı Bibliyografya
Yayımlandı:Balkan J Med Genet
Asıl Yazarlar: Terzic, M, Jakimovska, M, Fustik, S, Jakovska, T, Sukarova-Stefanovska, E, Plaseska-Karanfilska, D
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Sciendo 2019
Konular:
Original Article
Online Erişim: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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