Article ID Journal Published Year Pages File Type
8941104 Pulmonology 2018 7 Pages PDF
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.
Related Topics
Health Sciences Medicine and Dentistry Pulmonary and Respiratory Medicine
Authors
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