Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8941104 | Pulmonology | 2018 | 7 Pages |
Abstract
The majority of CFTR variants detected have been associated with a less severe CF phenotype. A wide spectrum of CFTR variants was identified, confirming the highest CFTR allelic heterogeneity previously reported in Mediterranean country. Additionally, better knowledge about the CFTR sequence variation spectrum may contribute to more efficient genetic testing in the Portuguese population.
Keywords
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Pulmonary and Respiratory Medicine
Authors
A. Grangeia, S. Alves, L. Gonçalves, I. Gregório, A.C. Santos, H. Barros, A. Barros, F. Carvalho, C. Moura,