Chargement en cours...

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...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:PLoS One
Auteurs principaux: Pierandrei, Silvia, Blaconà, Giovanna, Fabrizzi, Benedetta, Cimino, Giuseppe, Cirilli, Natalia, Caporelli, Nicole, Angeloni, Antonio, Cipolli, Marco, Lucarelli, Marco
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2019
Sujets:
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!