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).
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 |
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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 | |
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 |