Population Characteristics of the Spectrum and Frequencies of CFTR Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia)
Taking into account these results, highlighting the genetic specificity of the region, a more efficient search for CFTR mutations in patients can be performed. In particular it is possible to choose certain test kits for quick and effective genetic screening before use of NGS sequencing.
Authors
- Р. И. Хусаинова (ORCID: https://orcid.org/0000-0002-8643-850X)
- Sergey Litvinov (ORCID: https://orcid.org/0000-0002-5999-149X)
- В. Р. Ахметова (ORCID: https://orcid.org/0000-0001-5638-7046)
- Илдар Минниахметов (ORCID: https://orcid.org/0000-0002-7045-8215)
- Guzel R. Ayupova
- Natalia Mokrysheva (ORCID: https://orcid.org/0000-0003-2604-8347)
Institutions
- Endocrinology Research Center (RU)
- Institute of Biochemistry and Genetics of Ufa Scientific Centre (RU)
- Bashkir State Medical University (RU)
Publication Details
- Journal
- Genes
- Published
- 2024-10-17
- DOI
- https://doi.org/10.3390/genes15101335
- Citations
- 3
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 1.26