CFTR Mutations Spectrum and the Efficiency of Molecular Diagnostics in Polish Cystic Fibrosis Patients

Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane regulator gene (CFTR). In light of the strong allelic heterogeneity and regional specificity of the mutation spectrum, the strategy of molecular diagnostics and counseling in CF requires genetic tests to reflect the fre...

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Detalles Bibliográficos
Autores principales: Ziętkiewicz, Ewa, Rutkiewicz, Ewa, Pogorzelski, Andrzej, Klimek, Barbara, Voelkel, Katarzyna, Witt, Michał
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3935850/
https://www.ncbi.nlm.nih.gov/pubmed/24586523
http://dx.doi.org/10.1371/journal.pone.0089094

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3935850/
https://www.ncbi.nlm.nih.gov/pubmed/24586523
http://dx.doi.org/10.1371/journal.pone.0089094

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