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
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
Novel mutations and polymorphisms in the CFTR gene associated with three subtypes of congenital absence of vas deferens.
Yang X et al.
Fertility and Sterility, 2015
Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?
Dorfman R et al.
Clinical Genetics, 2010
The H-loop in the second nucleotide-binding domain of the cystic fibrosis transmembrane conductance regulator is required for efficient chloride channel closing.
Kloch M et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2010
Molecular and functional characterization of CBAVD-causing mutations located in CFTR nucleotide-binding domains.
Grangeia A et al.
Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2008
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