Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel f...
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene
About this item
Full title
Author / Creator
Barashkov, Nikolay A. , Konovalov, Fedor A. , Borisova, Tuyara V. , Teryutin, Fedor M. , Solovyev, Aisen V. , Pshennikova, Vera G. , Sapojnikova, Nadejda V. , Vychuzhina, Lyubov S. , Romanov, Georgii P. , Gotovtsev, Nyurgun N. , Morozov, Igor V. , Bondar, Alexander A. , Platonov, Fedor A. , Burtseva, Tatiana E. , Khusnutdinova, Elza K. , Posukh, Olga L. and Fedorova, Sardana A.
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Congenital autosomal recessive cataract with unknown genetic etiology is one of the most common Mendelian diseases among the Turkic-speaking Yakut population (Eastern Siberia, Russia). To identify the genetic cause of congenital cataract spread in this population, we performed whole-exome sequencing (Illumina NextSeq 500) in one Yakut family with t...
Alternative Titles
Full title
Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene
Authors, Artists and Contributors
Author / Creator
Konovalov, Fedor A.
Borisova, Tuyara V.
Teryutin, Fedor M.
Solovyev, Aisen V.
Pshennikova, Vera G.
Sapojnikova, Nadejda V.
Vychuzhina, Lyubov S.
Romanov, Georgii P.
Gotovtsev, Nyurgun N.
Morozov, Igor V.
Bondar, Alexander A.
Platonov, Fedor A.
Burtseva, Tatiana E.
Khusnutdinova, Elza K.
Posukh, Olga L.
Fedorova, Sardana A.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8187664
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8187664
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-021-00833-w
