Cargando…
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients
The distribution and frequency of the CFTR gene mutations vary considerably between countries and ethnic groups. Russians are an East Slavic ethnic groups are native to Eastern Europe. Russians, the most numerous people of the Russian Federation (RF), make about 80% of the population. The aim is to...
Autores principales: | Petrova, Nika V., Kashirskaya, Nataliya Y., Vasilyeva, Tatyana A., Kondratyeva, Elena I., Zhekaite, Elena K., Voronkova, Anna Y., Sherman, Victoria D., Galkina, Varvara A., Ginter, Eugeny K., Kutsev, Sergey I., Marakhonov, Andrey V., Zinchenko, Rena A. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288340/ https://www.ncbi.nlm.nih.gov/pubmed/32429104 http://dx.doi.org/10.3390/genes11050554 |
Ejemplares similares
-
Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation
por: Petrova, Nika, et al.
Publicado: (2021) -
High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients
por: Petrova, Nika V., et al.
Publicado: (2022) -
Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients
por: Petrova, Nika V., et al.
Publicado: (2020) -
Newborn Screening for Cystic Fibrosis in Russia: A Catalyst for Improved Care
por: Sherman, Victoria, et al.
Publicado: (2020) -
Clinical and Functional Characteristics of the E92K CFTR Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis
por: Kondratyeva, Elena, et al.
Publicado: (2023)