https://www.selleckchem.com/pr....oducts/Odanacatib-(M
BACKGROUND Major issues of newborn screening (NBS) for CF are the assessment of disease liability of variants and of the penetrance of clinical CF, notably in inconclusive diagnosis. The penetrance of CF is defined as the risk of a particular genotype to lead to a CF phenotype. METHODS We aimed to get insight into the penetrance of CF for fifteen CFTR variants 5 frequent CF-causing and 10 classified as of varying clinical consequence (VCC) or associated with a CFTR-related disorder (CFTR-RD) in CFTR2 or CFTR-France databases
إعجاب
علق
شارك
