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Article

S737F is a new CFTR mutation typical of patients originally from the Tuscany region in Italy.

Italian journal of pediatrics - 3 Jan 2018

Terlizzi Vito, Di Lullo Antonella Miriam, Comegna Marika, Centrone Claudia, Pelo Elisabetta, Castaldo Giuseppe, Raia Valeria, Braggion Cesare

Abstract excerpt

BACKGROUND: An increasing number of patients have been described as having a number of Cystic Fibrosis Transmembrane conductance Regulator (CFTR) variants for which it lacks a clear genotype-phenotype correlation. We assesses the clinical features of patients bearing the S737F (p.Ser737Phe) CFTR missense variant and evaluated the residual function of CFTR protein on nasal epithelial cells (NEC). METHODS: A...

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Identifiers

PMID: 29298718
DOI: 10.1186/s13052-017-0443-z
PMCID: PMC5753463

Genes

CFTR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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