-
Article
Open AccessCircRNAs in hematopoiesis and hematological malignancies
Cell states in hematopoiesis are controlled by master regulators and by complex circuits of a growing family of RNA species impacting cell phenotype maintenance and plasticity. Circular RNAs (circRNAs) are rap...
-
Article
Cystic fibrosis: The ΔF508 mutation does not lead to an exceptionally severe phenotype. A cohort study
In an attenmpt to ascertain a relationship between genotype and phenotype, we studied the pulmonary and nutritional status of 123 cystic fibrosis patients with known genotype at an age of 8.5–10 years. Patient...
-
Article
Incidence and expression of the N1303K mutation of the cystic fibrosis (CFTR) gene
The N1303K mutation was identified in the second nucleotide binding fold of the cystic fibrosis (CF) gene last year. We have gathered data from laboratories throughout Europe and the United States of America i...
-
Article
Analysis of 14 cystic fibrosis mutations in five South European populations
We have analysed five Southern European populations (Albanian, Greek, Italian, Spanish and Yugoslavian) for 14 cystic fibrosis (CF) mutations. The most frequent mutations, apart from ΔF508, were G542X (6.04%),...
-
Article
A tetranucleotide repeat polymorphism in the cystic fibrosis gene
We describe a tetranucleotide (GATT) repeat polymorphism in the cystic fibrosis transmembrane conductance regulator gene.
