Challenging the diagnosis of Cystic Fibrosis in a patient carrying the 186-8T/C allelic variant in the CF Transmembrane Conductance Regulator gene

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 di...

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Bibliografische gegevens
Hoofdauteurs: Caldrer, Sara, Verzè, Genny, Johansson, Jan, Sorio, Claudio, Angiari, Chiara, Buffelli, Mario, Assael, Baroukh Maurice, Melotti, Paola
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2014
Onderwerpen:
Case Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3995624/
https://ncbi.nlm.nih.gov/pubmed/24621136
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2466-14-44
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