טוען...

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...

תיאור מלא

שמור ב:
מידע ביבליוגרפי
הוצא לאור ב:PLoS One
Main Authors: Pierandrei, Silvia, Blaconà, Giovanna, Fabrizzi, Benedetta, Cimino, Giuseppe, Cirilli, Natalia, Caporelli, Nicole, Angeloni, Antonio, Cipolli, Marco, Lucarelli, Marco
פורמט: Artigo
שפה:Inglês
יצא לאור: Public Library of Science 2019
נושאים:
גישה מקוונת: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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