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

Bibliographic Details
Published in:Journal of Human Genetics
Main Authors: Barashkov, Nikolay A, Dzhemileva, Lilya U, Fedorova, Sardana A, Teryutin, Fedor M, Posukh, Olga L, Fedotova, Elvira E, Lobov, Simeon L, Khusnutdinova, Elza K
Format: Article in Journal/Newspaper
Language:English
Published: Springer Science and Business Media LLC 2011
Subjects:
Online Access:http://dx.doi.org/10.1038/jhg.2011.72
http://www.nature.com/articles/jhg201172.pdf
http://www.nature.com/articles/jhg201172
id crspringernat:10.1038/jhg.2011.72
record_format openpolar
spelling 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
_version_ 1766235219835224064