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A polymorphism in the 5' UTR of the DEFB1 gene is associated with the lung phenotype in F508del homozygous Italian cystic fibrosis patients

CROVELLA, SERGIO
•
SEGAT, LUDOVICA
•
Amato, Annalisa
altro
GASPARINI, PAOLO
2011
  • journal article

Periodico
CLINICAL CHEMISTRY AND LABORATORY MEDICINE
Abstract
The identification of cystic fibrosis (CF) patients who are at greater risk of lung damage could be clinically valuable. Thus, we attempted to replicate previous findings and verify the possible association between three single nucleotide polymorphisms (SNPs c.-52G>A, c.-44C>G and c.-20G>A) in the 5' untranslated region (5' UTR) of the β defensin 1 (DEFB1) gene and the CF pulmonary phenotype.
DOI
10.1515/CCLM.2011.023
WOS
WOS:000286418300007
Archivio
http://hdl.handle.net/11368/2894048
info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-79953145166
Diritti
metadata only access
Soggetti
  • Adult

  • Cystic Fibrosi

  • Cystic Fibrosis Trans...

  • Female

  • Genotype

  • Homozygote

  • Human

  • Italy

  • Male

  • Phenotype

  • Polymorphism, Genetic...

  • Young Adult

  • beta-Defensin

  • 5' Untranslated Regio...

  • Mutation

Web of Science© citazioni
11
Data di acquisizione
Mar 18, 2024
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