Article
Prevalence of CFTR mutations in hypertrypsinaemia detected through neonatal screening for cystic fibrosis.
Clinical genetics - 1 Jan 2001
Scotet V, De Braekeleer M, Audrézet M P, Lodé L, Verlingue C, Quéré I, Mercier B, Duguépéroux I, Codet J P, Moineau M P, Parent P, Férec C
Abstract excerpt
Nowadays, most of the neonatal screening programs for cystic fibrosis (CF) combine the assay of immunoreactive trypsinogen (IRT) with the analysis of the most common mutations of the CFTR gene. The efficiency of this strategy is now well established, but the identification of heterozygotes among neonates with increased IRT is perceived as a drawback. We proposed to assess the heterozygosity frequency among the...
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