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Article

Extended gene analysis can increase specificity of neonatal screening for cystic fibrosis.

Acta paediatrica (Oslo, Norway : 1992) - 1 Nov 2006

Mérelle Marieke E, Scheffer Hans, De Jong Debora, Dankert-Roelse Jeannette E

Abstract excerpt

AIM: To assess whether carriers and patients can be accurately identified by extended gene analysis for cystic fibrosis (CF) in dried blood spots. METHODS: A blinded analysis was performed in 10-mm2 blood spots on Guthrie cards, punched as if to remove material for the IRT test, from 10 CF patients and 10 carriers with known CF mutations. Genomic DNA was isolated. Aliquots of 1 microl dissolved DNA were used for...

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Source

Identifiers

PMID: 17062471
DOI: 10.1080/08035250600781846

Genes

CFTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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