Associated Papers
Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.
Feng J et al.
Reproduction (cambridge, England), 2022
Genotype-phenotype correlation and functional studies in patients with cystic fibrosis bearing CFTR complex alleles.
Terlizzi V et al.
Journal of Medical Genetics, 2017
Orphan missense mutations in the cystic fibrosis transmembrane conductance regulator: A three-step biological approach to establishing a correlation between genotype and phenotype.
Fresquet F et al.
The Journal of Molecular Diagnostics : Jmd, 2011
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Dorfman R et al.
Clinical Genetics, 2010
Outcome of intracytoplasmic sperm injection for a couple in which the man is carrier of CFTR p.[R74W;V201M;D1270N] and p.P841R mutations and his spouse a heterozygous carrier of p.F508del mutation of the cystic fibrosis transmembrane conductance regulator gene.
Brugnon F et al.
Fertility and Sterility, 2008
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