[Cystic fibrosis: molecular update and clinical implications].

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Article

[Cystic fibrosis: molecular update and clinical implications].

Revista de investigacion clinica; organo del Hospital de Enfermedades de la Nutricion - 1 Jan 2000

Orozco Lorena, Chávez Margarita, Saldaña Yolanda, Velázquez Rafael, Carnevale Alessandra, González-del Angel Ariadna, Jiménez Silvia

Abstract excerpt

Cystic fibrosis (CF) is an autosomal recessive disorder characterized by chronic pneumopathy, pancreatic insufficiency, elevated sweat chloride levels and male infertility. It is caused by defects in the CF transmembrane conductance regulator (CFTR) gene, which encodes a protein that functions as a chloride channel. The identification of the CF-causing gene was a landmark in molecular medicine. Currently, over...

Topics

Cystic Fibrosis
Cystic Fibrosis Transmembrane Conductance Regulator
Humans
Mutation
Pedigree

Source

Open in PubMed

Identifiers

PMID: 16827266

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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