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...

Descripción completa

Detalles Bibliográficos
Autores principales: Pierandrei, Silvia, Blaconà, Giovanna, Fabrizzi, Benedetta, Cimino, Giuseppe, Cirilli, Natalia, Caporelli, Nicole, Angeloni, Antonio, Cipolli, Marco, Lucarelli, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6782095/
https://www.ncbi.nlm.nih.gov/pubmed/31593572
http://dx.doi.org/10.1371/journal.pone.0222838

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6782095/
https://www.ncbi.nlm.nih.gov/pubmed/31593572
http://dx.doi.org/10.1371/journal.pone.0222838

Ejemplares similares