Severe α-1 antitrypsin deficiency caused by Q0(Ourém) allele: clinical features, haplotype characterization and history.

@article{Rodrigues2012SevereA,
  title={Severe α-1 antitrypsin deficiency caused by Q0(Our{\'e}m) allele: clinical features, haplotype characterization and history.},
  author={Lu{\'i}s Vaz Rodrigues and Fabrizio Costa and Pedro Marques and Chriselle Mendonca and Jussara Cordeiro Rocha and Susana Seixas},
  journal={Clinical genetics},
  year={2012},
  volume={81 5},
  pages={
          462-9
        }
}
α-1 Antitrypsin deficiency (AATD) caused by null alleles is associated with the total lack of protein and generally it translates into more severe clinical features of pulmonary disease. This is the case of Q0(Ourém) , a rare variant found in several families of Central Portugal caused by the L353fsX376 mutation. A total of 41 patients carrying at least one copy of Q0(Ourém) were evaluated for SERPINA1 levels, respiratory function values and lung parenchyma status (chest X-ray and computerized… CONTINUE READING
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