Article
Challenging the diagnosis of cystic fibrosis in a patient carrying the 186-8T/C allelic variant in the CF transmembrane conductance regulator gene.
BMC pulmonary medicine - 13 Mar 2014
Caldrer Sara, Verzè Genny, Johansson Jan, Sorio Claudio, Angiari Chiara, Buffelli Mario, Assael Baroukh Maurice, Melotti Paola
Abstract excerpt
BACKGROUND: This report describe for the first time a clinical case with a CFTR allelic variant 186-8T/C (c.54-8 T/C) in intron 1 of CFTR and underline the importance of applying a combination of genetic and functional tests to establish or exclude a diagnosis of Cystic Fibrosis. In this case the diagnostic algorithm proposed for CF has been successfully applied at our Center and previous CF diagnosis assigned in...
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