MUKOVISTSIDOZ PATALOGIYASI BILAN CHALINGAN BOLALARDA CFTR GENINING MUTATSIYALARINI TAHLIL QILISH

Authors

  • Kurbonova.Z.Ch Toshkent tibbiyot akademiyasi Author
  • Ibragimova M.I., Toshkent tibbiyot akademiyasi Author
  • Shomasurova G.E. Toshkent tibbiyot akademiyasi Author

Keywords:

Mukovissidoz kasalligi etiologiyasi va potogemezida CFTR (Mukovitsidoz transmembrane regulyatori) genidagi mutatsiya xlor ionlarining hujayralararo transportiga ta'sir qilib, shilimshiqning haddan tashqari qalinlashishiga olib keladi.

Abstract

Mukovissidoz (Cystic Fibrosis) — autosomal resessiv yo‘l bilan nasldan naslga o‘tuvchi genetik kasallik bo‘lib, CFTR - (cystic fibrosis transmembrane conductance regulator) genidagi mutatsiyalar sabab bo‘ladi.  Ushbu kasallik asosan nafas va oshqozon-ichak tizimlarida mukusning qalinlashishi bilan xarakterlanadi.

References

1.Boat, T. F., & Beaudet, A. L. (1999). "Cystic Fibrosis: Basic and Clinical Aspects of the Gene, the Protein, and the Disease." Journal of Pediatrics,

2.Cutting, G. R. (2015). "Cystic Fibrosis Genetics: From Molecular Understanding to Clinical Application." Nature Reviews Genetics.

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Published

2026-03-29