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Article

A rare CFTR intronic mutation related to a mild CF disease in a 12-year-old girl.

BMJ case reports - 9 Nov 2012

Nathan Nadia, Girodon Emmanuelle, Clement Annick, Corvol Harriet

Abstract excerpt

We report the case of a 12-year-old girl with an allergic bronchopulmonary aspergillosis (ABPA), intermediate sweat chloride tests and one cystic fibrosis (CF)-causing mutation, p.Phe508del. After extensive screening of the CF transmembrane regulator (CFTR) gene, she finally was found to carry a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23144343
DOI: 10.1136/bcr-2012-006918
PMCID: PMC4543918

Genes

CFTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23144343-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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