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Article

Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.

European journal of human genetics : EJHG - 1 Apr 2013

Sobczyńska-Tomaszewska Agnieszka, Ołtarzewski Mariusz, Czerska Kamila, Wertheim-Tysarowska Katarzyna, Sands Dorota, Walkowiak Jarosław, Bal Jerzy, Mazurczak Tadeusz

Abstract excerpt

Newborn screening for cystic fibrosis (NBS CF) in Poland was started in September 2006. Summary from 4 years' experience is presented in this study. The immunoreactive trypsin/DNA sequencing strategy was implemented. The group of 1,212,487 newborns were screened for cystic fibrosis during the programme. We identified a total of 221 CF cases during this period, including, 4 CF cases were reported to be omitted by...

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Source

Open in PubMed Open full text

Identifiers

PMID: 22892530
DOI: 10.1038/ejhg.2012.180
PMCID: PMC3598320

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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