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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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| Publié dans: | PLoS One |
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| Auteurs principaux: | , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Public Library of Science
2019
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| 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 |
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