Literature DB >> 30548586

Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.

Nika V Petrova1, Andrey V Marakhonov1, Tatiana A Vasilyeva1, Natalya Y Kashirskaya1, Evgeny K Ginter1, Sergey I Kutsev1,2, Rena A Zinchenko1,2.   

Abstract

Single nucleotide variants are represented as lines. The height of the line corresponds to the allele frequency. Gross chromosomal copy number variations are shown as arrows. Color corresponds to the mutation type. Complex alleles represented with a clip. Previously reported variants are located above the schematic gene representation. Their names are presented in Table 1 in main text. Novel variants are depicted beneath the schematic gene representation.
© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Entities:  

Year:  2018        PMID: 30548586     DOI: 10.1111/cge.13477

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  4 in total

1.  Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence.

Authors:  Rena A Zinchenko; Eugeny K Ginter; Andrey V Marakhonov; Nika V Petrova; Vitaly V Kadyshev; Tatyana P Vasilyeva; Oksana U Alexandrova; Alexander V Polyakov; Sergey I Kutsev
Journal:  Front Genet       Date:  2021-08-30       Impact factor: 4.772

2.  Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.

Authors:  Nika V Petrova; Nataliya Y Kashirskaya; Tatyana A Vasilyeva; Elena I Kondratyeva; Elena K Zhekaite; Anna Y Voronkova; Victoria D Sherman; Varvara A Galkina; Eugeny K Ginter; Sergey I Kutsev; Andrey V Marakhonov; Rena A Zinchenko
Journal:  Genes (Basel)       Date:  2020-05-15       Impact factor: 4.096

3.  Analysis of CNVs of CFTR gene in Chinese Han population with CBAVD.

Authors:  Chengquan Ma; Ruyi Wang; Tengyan Li; Hongjun Li; Binbin Wang
Journal:  Mol Genet Genomic Med       Date:  2020-09-19       Impact factor: 2.183

4.  Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients.

Authors:  Nika V Petrova; Nataliya Y Kashirskaya; Stanislav A Krasovskiy; Elena L Amelina; Elena I Kondratyeva; Andrey V Marakhonov; Tatyana A Vasilyeva; Anna Y Voronkova; Victoria D Sherman; Evgeny K Ginter; Sergey I Kutsev; Rena A Zinchenko
Journal:  Genes (Basel)       Date:  2020-09-27       Impact factor: 4.096

  4 in total

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