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Article

Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden.

Clinical genetics - 1 Oct 1999

Schaedel C, Hjelte L, de Monestrol I, Johannesson M, Kollberg H, Kornfält R, Holmberg L

Abstract excerpt

Children with cystic fibrosis (CF) diagnosed by neonatal screening have a better nutritional development and other advantages compared with those in a nonscreened group. The two-tier immunoreactive trypsinogen (IRT)/DNA screening protocol has been found superior to the single-tier IRT approach, improving the positive predictive value and thus reducing the false-positive rate. However, variations of the DNA test...

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Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Frequency

Share to Homozygote

Share to Infant, Newborn

Share to Neonatal Screening

Share to Polymorphism, Single-Stranded Conformational

Share to Sweden

Source

Identifiers

PMID: 10636451
DOI: 10.1034/j.1399-0004.1999.560410.x

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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