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Article

Does cystic fibrosis neonatal screening detect atypical CF forms? Extended genetic characterization and 4-year clinical follow-up.

Clinical genetics - 1 Jul 2007

Narzi L, Ferraguti G, Stamato A, Narzi F, Valentini S B, Lelli A, Delaroche I, Lucarelli M, Strom R, Quattrucci S

Abstract excerpt

The neonatal screening protocol for cystic fibrosis (CF) is based on a first determination of blood immunoreactive trypsin (IRT1), followed by a first level genetic test that includes the 31 worldwide most common mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene (DNA31), and a second determination of blood immunoreactive trypsin (IRT2). This approach identifies, in addition to...

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Source

Identifiers

PMID: 17594398
DOI: 10.1111/j.1399-0004.2007.00825.x

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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