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Gross genomic rearrangements involving deletions in the CFTR gene have recently been found to account for ∼20% of unidentified cystic fibrosis (CF) chromosomes in both French and Italian patients.(More)
BACKGROUND This two decade long study presents a comprehensive overview of the CFTR mutation distribution in a representative cohort of 600 Czech CF patients derived from all regions of the Czech(More)
The objective need for cystic fibrosis (CF) newborn screening (NBS) in the Czech Republic has recently been substantiated by a significant delay of its symptomatic diagnosis. This trend most likely(More)
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