Article
Cystic fibrosis carriers have higher neonatal immunoreactive trypsinogen values than non-carriers.
American journal of medical genetics. Part A - 1 Jun 2005
Castellani Carlo, Picci Luigi, Scarpa Maurizio, Dechecchi Maria Cristina, Zanolla Luisa, Assael Baroukh Maurice, Zacchello Franco
Abstract excerpt
Following cystic fibrosis (CF) neonatal screening implementation, a high frequency of heterozygotes has been reported among neonates with elevated immunoreactive trypsinogen (IRT) and normal sweat chloride levels. We studied the relationship between normal IRT values and CF heterozygosity: 10,000 neonates were screened for CF by IRT measurement and tested for 40 CF mutations; the 294 carriers detected were...
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