Two novel and correlated CF-causing insertions in the (TG)mTn tract of the CFTR gene
Two novel and correlated CF-causing insertions in the (TG)mTn tract of the CFTR gene
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Publisher
United States: Public Library of Science
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Language
English
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Publisher
United States: Public Library of Science
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Contents
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 presence of one mutated allele, p.Phe508del, pathologi...
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Full title
Two novel and correlated CF-causing insertions in the (TG)mTn tract of the CFTR gene
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TN_cdi_plos_journals_2302400662
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_2302400662
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0222838
