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

V. Y. Danilchenko; M. V. Zytsar; M. S. Bady-Khoo; E. A. Maslova; A. A. Bondar; I. V. Morozov; N. A. Barashkov; O. L. Posukh

doi:10.1038/s41431-020-00741-5

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

V. Y. Danilchenko, M. V. Zytsar, M. S. Bady-Khoo, E. A. Maslova, A. A. Bondar, I. V. Morozov, N. A. Barashkov, O. L. Posukh

Результат исследования: Научные публикации в периодических изданиях › тезисы › рецензирование

2 Цитирования (Scopus)

Аннотация

Mutations in the SLC26A4 gene (7q22-q31) lead to recessively inherited deafness (DFNB4) and Pendred syndrome. More than 500 pathogenic SLC26A4-variants are
currently 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).

Язык оригинала	английский
Номер статьи	P02.14
Страницы (с-по)	810-811
Число страниц	2
Журнал	European journal of human genetics
Том	28
Номер выпуска	Suppl 1
DOI	https://doi.org/10.1038/s41431-020-00741-5
Состояние	Опубликовано - 1 дек. 2020
Событие	53rd Conference of the European-Society-of-Human-Genetics (ESHG) - Virtual Conference Продолжительность: 6 июн. 2020 → 9 июн. 2020 Номер конференции: 53

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10.1038/s41431-020-00741-5

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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

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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",

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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, том. 28, № Suppl 1, P02.14, стр. 810-811. https://doi.org/10.1038/s41431-020-00741-5

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. и др.

В: European journal of human genetics, Том 28, № Suppl 1, P02.14, 01.12.2020, стр. 810-811.

Результат исследования: Научные публикации в периодических изданиях › тезисы › рецензирование

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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.

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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).

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