Abstract
We describe a patient in whom newborn immunoreactive trypsin screening and mutation analysis suggested a diagnosis of cystic fibrosis; however, the clinical course and sweat test results were not consistent with the diagnosis. Direct sequencing of the patient's genomic DNA showed compound heterozygosity for ΔF508 and F508C, a polymorphism not associated with clinical disease.
Original language | English (US) |
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Pages (from-to) | 658-660 |
Number of pages | 3 |
Journal | Journal of Pediatrics |
Volume | 130 |
Issue number | 4 |
DOIs | |
State | Published - 1997 |
Externally published | Yes |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health