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Cystic Fibrosis.pdf

cystic-fibrosis-in-uruguay.pdf
Preview of Cystic Fibrosis
🔗 Source: geneticsmr.org
📊 Size: 579 KB
👤 Author: Genetics and Molecular Research
⬇️ Downloads: 93

Summary

Cystic fibrosis patients in Uruguay have a relatively low incidence of the ∆F508 allele (40%) and a large number of other cystic fibrosis conductance regulator mutations, with 15 different mutations detected, including ∆F508, G542X, R1162X, G85E, N1303K, R334W, R75Q, R74W, D1270N, W1282X, ∆I507, 2789+5G→A, R1066C, -816C/T, and R553X, as well as RNA splicing variant IVS8-5T, and an overall detection rate of about 71%.

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Description

Cystic fibrosis patients in Uruguay have a relatively low incidence of the ∆F508 allele (40%) and a large number of other cystic fibrosis conductance regulator...

Technical Information

  • File Format: PDF
  • File Size: 579 KB
  • Pages: 7
  • Language: EN
  • Author: Genetics and Molecular Research
  • Total Downloads: 93
  • Last Updated: 3 weeks ago

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