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Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

256
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
256
Cystic Fibrosis: Management01:24

Cystic Fibrosis: Management

173
Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
Sinus disease and chronic...
173

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Video Experimental Relacionado

Updated: Jul 14, 2025

Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein Expressed in Saccharomyces cerevisiae
15:12

Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein Expressed in Saccharomyces cerevisiae

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Cribado prenatal para las variantes CFTR

Nikolaos Vlachadis1, Nikolaos Vrachnis2

  • 1Department of Midwifery, University of West Attica, Athens, Greece.

JAMA
|October 10, 2023
PubMed
Resumen

No abstract available in PubMed .

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