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Mutational spectrum of the SLC26A4 gene and its contribution to the etiology of hearing loss in the indigenous peoples of Southern Siberia (Russia). / Danilchenko, V. Y.; Zytsar, M. V.; Bady-Khoo, M. S. et al.

In: European journal of human genetics, Vol. 28, No. Suppl 1, P02.14, 01.12.2020, p. 810-811.

Research output: Contribution to journal › Meeting Abstract › peer-review

Harvard

Danilchenko, VY, Zytsar, MV, Bady-Khoo, MS, Maslova, EA, Bondar, AA, Morozov, IV, Barashkov, NA & Posukh, OL 2020, 'Mutational spectrum of the SLC26A4 gene and its contribution to the etiology of hearing loss in the indigenous peoples of Southern Siberia (Russia)', European journal of human genetics, vol. 28, no. Suppl 1, P02.14, pp. 810-811. https://doi.org/10.1038/s41431-020-00741-5

APA

Danilchenko, V. Y., Zytsar, M. V., Bady-Khoo, M. S., Maslova, E. A., Bondar, A. A., Morozov, I. V., Barashkov, N. A., & Posukh, O. L. (2020). Mutational spectrum of the SLC26A4 gene and its contribution to the etiology of hearing loss in the indigenous peoples of Southern Siberia (Russia). European journal of human genetics, 28(Suppl 1), 810-811. [P02.14]. https://doi.org/10.1038/s41431-020-00741-5

Vancouver

Danilchenko VY, Zytsar MV, Bady-Khoo MS, Maslova EA, Bondar AA, Morozov IV et al. Mutational spectrum of the SLC26A4 gene and its contribution to the etiology of hearing loss in the indigenous peoples of Southern Siberia (Russia). European journal of human genetics. 2020 Dec 1;28(Suppl 1):810-811. P02.14. doi: 10.1038/s41431-020-00741-5

Author

Danilchenko, V. Y. ; Zytsar, M. V. ; Bady-Khoo, M. S. et al. / Mutational spectrum of the SLC26A4 gene and its contribution to the etiology of hearing loss in the indigenous peoples of Southern Siberia (Russia). In: European journal of human genetics. 2020 ; Vol. 28, No. Suppl 1. pp. 810-811.

BibTeX

@article{721b128839384089beca6a3f0e15ccbb,
title = "Mutational spectrum of the SLC26A4 gene and its contribution to the etiology of hearing loss in the indigenous peoples of Southern Siberia (Russia)",
abstract = "Mutations in the SLC26A4 gene (7q22-q31) lead to recessively inherited deafness (DFNB4) and Pendred syndrome. More than 500 pathogenic SLC26A4-variants arecurrently revealed in deaf patients in different populations worldwide. This study aimed to investigate the SLC26A4 pathogenic contribution in deafness with unknown etiology in patients belonging to indigenous peoples of Southern Siberia: Tuvinians (the Tyva Republic) and Altaians (the Altai Republic).",
author = "Danilchenko, {V. Y.} and Zytsar, {M. V.} and Bady-Khoo, {M. S.} and Maslova, {E. A.} and Bondar, {A. A.} and Morozov, {I. V.} and Barashkov, {N. A.} and Posukh, {O. L.}",
note = "Study was supported by Projects #0259-2019-0010-C-01, #0324-2019-0041-C-01 and RFBR grants #17-29-06016_ofi-m, #20-015-00328_a.; 53rd Conference of the European-Society-of-Human-Genetics (ESHG), ESHG ; Conference date: 06-06-2020 Through 09-06-2020",
year = "2020",
month = dec,
day = "1",
doi = "10.1038/s41431-020-00741-5",
language = "English",
volume = "28",
pages = "810--811",
journal = "European journal of human genetics",
issn = "1018-4813",
publisher = "Nature Publishing Group",
number = "Suppl 1",

}

RIS

TY - JOUR

T1 - Mutational spectrum of the SLC26A4 gene and its contribution to the etiology of hearing loss in the indigenous peoples of Southern Siberia (Russia)

AU - Danilchenko, V. Y.

AU - Zytsar, M. V.

AU - Bady-Khoo, M. S.

AU - Maslova, E. A.

AU - Bondar, A. A.

AU - Morozov, I. V.

AU - Barashkov, N. A.

AU - Posukh, O. L.

N1 - Conference code: 53

PY - 2020/12/1

Y1 - 2020/12/1

N2 - Mutations in the SLC26A4 gene (7q22-q31) lead to recessively inherited deafness (DFNB4) and Pendred syndrome. More than 500 pathogenic SLC26A4-variants arecurrently revealed in deaf patients in different populations worldwide. This study aimed to investigate the SLC26A4 pathogenic contribution in deafness with unknown etiology in patients belonging to indigenous peoples of Southern Siberia: Tuvinians (the Tyva Republic) and Altaians (the Altai Republic).

AB - Mutations in the SLC26A4 gene (7q22-q31) lead to recessively inherited deafness (DFNB4) and Pendred syndrome. More than 500 pathogenic SLC26A4-variants arecurrently revealed in deaf patients in different populations worldwide. This study aimed to investigate the SLC26A4 pathogenic contribution in deafness with unknown etiology in patients belonging to indigenous peoples of Southern Siberia: Tuvinians (the Tyva Republic) and Altaians (the Altai Republic).

UR - http://www.scopus.com/inward/record.url?scp=85097036351&partnerID=8YFLogxK

U2 - 10.1038/s41431-020-00741-5

DO - 10.1038/s41431-020-00741-5

M3 - Meeting Abstract

C2 - 33262486

VL - 28

SP - 810

EP - 811

JO - European journal of human genetics

JF - European journal of human genetics

SN - 1018-4813

IS - Suppl 1

M1 - P02.14

T2 - 53rd Conference of the European-Society-of-Human-Genetics (ESHG)

Y2 - 6 June 2020 through 9 June 2020

ER -

ID: 27647320