Two novel and correlated CF-causing insertions in the
Two novel and correlated CF-causing insertions in the
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Publisher
Public Library of Science
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Language
English
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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
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TN_cdi_gale_incontextgauss_ISR_A602064495
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_gale_incontextgauss_ISR_A602064495
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ISSN
1932-6203
E-ISSN
1932-6203
DOI
10.1371/journal.pone.0222838
