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- W1489288313 abstract "We describe the presentation of a Hispanic adolescent with chronic respiratory symptoms and poor growth that led to a diagnosis of cystic fibrosis (CF) based on an indeterminate sweat chloride result and DNA sequence analysis that revealed a single new frameshift mutation, Nt3878insATCAG, which results in a premature stop codon in exon 20 of the CFTR gene. This case, highlighted by the identification of a deleterious, disease-causing mutation, illustrates the importance of maintaining both a high clinical suspicion for CF and low threshold for obtaining genetic testing in a non-Caucasian Hispanic adolescent with a characteristic clinical presentation." @default.
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- W1489288313 date "2013-02-08" @default.
- W1489288313 modified "2023-10-06" @default.
- W1489288313 title "Cystic fibrosis in a Hispanic adolescent" @default.
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- W1489288313 doi "https://doi.org/10.1002/ppul.22758" @default.
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