Suggestions

Du même auteur

Functional characterization and phenotypic spectrum of three recurrent disease-causing deep intronic variants of the CFTR gene

Archive ouverte | Bergougnoux, A. | CCSD

International audience. BACKGROUND:The CFTR genotype remains incomplete in 1% of Cystic Fibrosis (CF) cases, because only one or no disease-causing variants is detected after extended analysis. This fraction is prob...

ECFS standards of care on CFTR-related disorders: Identification and care of the disorders

Archive ouverte | Simmonds, N.J. | CCSD

International audience. This is the third paper in the series providing updated information and recommendations for people with cystic fibrosis transmembrane conductance regulator (CFTR)-related disorder (CFTR-RD). ...

Penetrance is a critical parameter for assessing the disease liability of CFTR variants

Archive ouverte | Boussaroque, A. | CCSD

International audience. 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 pen...

Chargement des enrichissements...