Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect
Published in: | Journal of Human Genetics |
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Language: | English |
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Springer Science and Business Media LLC
2011
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Online Access: | http://dx.doi.org/10.1038/jhg.2011.72 http://www.nature.com/articles/jhg201172.pdf http://www.nature.com/articles/jhg201172 |
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crspringernat:10.1038/jhg.2011.72 2023-05-15T18:44:32+02:00 Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect Barashkov, Nikolay A Dzhemileva, Lilya U Fedorova, Sardana A Teryutin, Fedor M Posukh, Olga L Fedotova, Elvira E Lobov, Simeon L Khusnutdinova, Elza K 2011 http://dx.doi.org/10.1038/jhg.2011.72 http://www.nature.com/articles/jhg201172.pdf http://www.nature.com/articles/jhg201172 en eng Springer Science and Business Media LLC http://www.springer.com/tdm Journal of Human Genetics volume 56, issue 9, page 631-639 ISSN 1434-5161 1435-232X Genetics (clinical) Genetics journal-article 2011 crspringernat https://doi.org/10.1038/jhg.2011.72 2022-01-04T09:14:08Z Article in Journal/Newspaper Yakut Siberia Springer Nature (via Crossref) Journal of Human Genetics 56 9 631 639 |
institution |
Open Polar |
collection |
Springer Nature (via Crossref) |
op_collection_id |
crspringernat |
language |
English |
topic |
Genetics (clinical) Genetics |
spellingShingle |
Genetics (clinical) Genetics Barashkov, Nikolay A Dzhemileva, Lilya U Fedorova, Sardana A Teryutin, Fedor M Posukh, Olga L Fedotova, Elvira E Lobov, Simeon L Khusnutdinova, Elza K Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect |
topic_facet |
Genetics (clinical) Genetics |
format |
Article in Journal/Newspaper |
author |
Barashkov, Nikolay A Dzhemileva, Lilya U Fedorova, Sardana A Teryutin, Fedor M Posukh, Olga L Fedotova, Elvira E Lobov, Simeon L Khusnutdinova, Elza K |
author_facet |
Barashkov, Nikolay A Dzhemileva, Lilya U Fedorova, Sardana A Teryutin, Fedor M Posukh, Olga L Fedotova, Elvira E Lobov, Simeon L Khusnutdinova, Elza K |
author_sort |
Barashkov, Nikolay A |
title |
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect |
title_short |
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect |
title_full |
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect |
title_fullStr |
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect |
title_full_unstemmed |
Autosomal recessive deafness 1A (DFNB1A) in Yakut population isolate in Eastern Siberia: extensive accumulation of the splice site mutation IVS1+1G>A in GJB2 gene as a result of founder effect |
title_sort |
autosomal recessive deafness 1a (dfnb1a) in yakut population isolate in eastern siberia: extensive accumulation of the splice site mutation ivs1+1g>a in gjb2 gene as a result of founder effect |
publisher |
Springer Science and Business Media LLC |
publishDate |
2011 |
url |
http://dx.doi.org/10.1038/jhg.2011.72 http://www.nature.com/articles/jhg201172.pdf http://www.nature.com/articles/jhg201172 |
genre |
Yakut Siberia |
genre_facet |
Yakut Siberia |
op_source |
Journal of Human Genetics volume 56, issue 9, page 631-639 ISSN 1434-5161 1435-232X |
op_rights |
http://www.springer.com/tdm |
op_doi |
https://doi.org/10.1038/jhg.2011.72 |
container_title |
Journal of Human Genetics |
container_volume |
56 |
container_issue |
9 |
container_start_page |
631 |
op_container_end_page |
639 |
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1766235219835224064 |