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Article

Ethnicity impacts the cystic fibrosis diagnosis: A note of caution.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jul 2017

Bosch Barbara, Bilton Diana, Sosnay Patrick, Raraigh Karen S, Mak Denise Y F, Ishiguro Hiroshi, Gulmans Vincent, Thomas Muriel, Cuppens Harry, Amaral Margarida, De Boeck Kris

Abstract excerpt

BACKGROUND: The diagnosis of Cystic Fibrosis (CF) is by consensus based on the same parameters in all patients, yet the influence of ethnicity has only scarcely been studied. We aimed at elucidating the impact of Asian descent on the diagnosis of CF. METHODS: We performed a retrospective analysis of the CFTR2 and UK CF databases for clinical phenotype, sweat chloride values and CFTR mutations and compared the...

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Source

Identifiers

PMID: 28233695
DOI: 10.1016/j.jcf.2017.01.016

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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