Cystic fibrosis transmembrane conductance regulator functional evaluations in a G542X+/- IVS8Tn:T7/9 patient with acute recurrent pancreatitis

BACKGROUND: Acute recurrent pancreatitis (ARP) is characterized by episodes of acute pancreatitis in an otherwise normal gland. When no cause of ARP is identifiable, the diagnosis of "idiopathic" ARP is given. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene...

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Detalles Bibliográficos
Autores principales: Caldrer, Sara, Bergamini, Gabriella, Sandri, Angela, Vercellone, Silvia, Rodella, Luca, Cerofolini, Angelo, Tomba, Francesco, Catalano, Filippo, Frulloni, Luca, Buffelli, Mario, Tridello, Gloria, de Jonge, Hugo, Assael, Baroukh Maurice, Sorio, Claudio, Melotti, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6887611/
https://www.ncbi.nlm.nih.gov/pubmed/31799301
http://dx.doi.org/10.12998/wjcc.v7.i22.3757

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