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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:PLoS One
Päätekijät: Pierandrei, Silvia, Blaconà, Giovanna, Fabrizzi, Benedetta, Cimino, Giuseppe, Cirilli, Natalia, Caporelli, Nicole, Angeloni, Antonio, Cipolli, Marco, Lucarelli, Marco
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science 2019
Aiheet:
Research Article
Linkit: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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