Associated Papers
Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.
de Souza DAS et al.
Andrology, 2018
An electrostatic interaction at the tetrahelix bundle promotes phosphorylation-dependent cystic fibrosis transmembrane conductance regulator (CFTR) channel opening.
Wang W et al.
The Journal of Biological Chemistry, 2014
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Dorfman R et al.
Clinical Genetics, 2010
Insight in eukaryotic ABC transporter function by mutation analysis.
Frelet A et al.
Febs Letters, 2006
The phenotypic consequences of CFTR mutations.
Rowntree RK et al.
Annals of Human Genetics, 2003
Analysis of cystic fibrosis transmembrane conductance regulator gene mutations in patients with congenital absence of the uterus and vagina.
Timmreck LS et al.
American Journal of Medical Genetics. Part A, 2003
Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.
Choi JY et al.
Nature, 2001
Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
Claustres M et al.
Human Mutation, 2000
Functional domain analysis of the yeast ABC transporter Ycf1p by site-directed mutagenesis.
Falcón-Pérez JM et al.
The Journal of Biological Chemistry, 1999
Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
Vankeerberghen A et al.
Human Molecular Genetics, 1998
Mutations in the cystic fibrosis gene in men with congenital bilateral absence of the vas deferens.
De Braekeleer M et al.
Molecular Human Reproduction, 1996
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
Chillón M et al.
The New England Journal of Medicine, 1995
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
Mercier B et al.
American Journal of Human Genetics, 1995
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