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Article

Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients.

Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology - 1 Jan 2009

Ramalho Anabela S, Lewandowska Marzena A, Farinha Carlos M, Mendes Filipa, Gonçalves Juan, Barreto Celeste, Harris Ann, Amaral Margarida D

Abstract excerpt

BACKGROUND/AIMS: Mutations in the CFTR gene cause Cystic Fibrosis (CF) the most common life-threatening autosomal recessive disease affecting Caucasians. We identified a CFTR mutation (c.120del23) abolishing the normal translation initiation codon, which occurs in two Portuguese CF patients. This study aims at functionally characterizing the effect of this novel mutation. METHODS: RNA and protein techniques were...

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Source

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Identifiers

PMID: 19910674
DOI: 10.1159/000257426
PMCID: PMC2793277

Genes

CFTR

Provenance

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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