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Two novel and correlated CF-causing insertions in the (TG)mTn tract of the CFTR gene

Two novel and related pathogenic variants of the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene were structurally and functionally characterized. These alterations have not been previously described in literature. Two patients with diagnosis of Cystic Fibrosis (CF) based on the pres...

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Detalhes bibliográficos
Publicado no:PLoS One
Main Authors: Pierandrei, Silvia, Blaconà, Giovanna, Fabrizzi, Benedetta, Cimino, Giuseppe, Cirilli, Natalia, Caporelli, Nicole, Angeloni, Antonio, Cipolli, Marco, Lucarelli, Marco
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6782095/
https://ncbi.nlm.nih.gov/pubmed/31593572
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0222838
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