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Article

V232D mutation in patients with cystic fibrosis: Not so rare, not so mild.

Medicine - 1 Jul 2018

Fernández-Lorenzo Ana E, Moreno-Álvarez Ana, Colon-Mejeras Cristóbal, Barros-Angueira Francisco, Solar-Boga Alfonso, Sirvent-Gómez Josep, Couce María L, Leis Rosaura

Abstract excerpt

The frequency of some Cystic Fibrosis (CF) Transmembrane Conductance Regulator gene (CFTR) mutations varies between populations. Genetic testing during newborn screening (NBS) for CF can identify less common mutations with low clinical expression in childhood and previously considered mild but not fully characterized, such as the mutation p.Val232Asp (c.695T > A). The aim of this study was to describe CF patients...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 29995784
DOI: 10.1097/MD.0000000000011397
PMCID: PMC6076148

Genes

CFTR

Variants

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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