Large phenotypic spectrum associated with two new deep intronic variants on the CFTR gene
Conclusion: The two new deep intronic variants are associated with a large phenotypic spectrum, from male infertility to typical CF. These variants should be systematically tested in patients with intermediate or positive sweat tests who do not carry two disease-causing CFTR variants after routine analysis.
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Bergougnoux, A., Deletang, K., Varilh, J., Houriez, F., Altieri, J.-P., Koenig, M., Ferec, C., Mireille, C., Bienvenu, T., Audrezet, M.-P., Pagin, A., Girodon, E., Raynal, C., Taulan-Cadars, M. Tags: Cystic fibrosis Source Type: research
More News: Asthma | Cystic Fibrosis | Genetics | Infertility | Pancreas | Reproduction Medicine | Respiratory Medicine | Sinusitis | Spirometry