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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Autores principales: Ewa Ziętkiewicz, Ewa Rutkiewicz, Andrzej Pogorzelski, Barbara Klimek, Katarzyna Voelkel, Michał Witt
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2014
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Acceso en línea:https://doaj.org/article/be0cb2b8c56549daa7575f25ee624636
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