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<article article-type="research-article" dtd-version="1.3" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xml:lang="ru"><front><journal-meta><journal-id journal-id-type="publisher-id">medgen</journal-id><journal-title-group><journal-title xml:lang="ru">Медицинская генетика</journal-title><trans-title-group xml:lang="en"><trans-title>Medical Genetics</trans-title></trans-title-group></journal-title-group><issn pub-type="ppub">2073-7998</issn><publisher><publisher-name>Publishing House «Genius Media» LLC</publisher-name></publisher></journal-meta><article-meta><article-id custom-type="elpub" pub-id-type="custom">medgen-1671</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="ru"><subject>КРАТКИЕ СООБЩЕНИЯ</subject></subj-group><subj-group subj-group-type="section-heading" xml:lang="en"><subject>BRIEF REPORT</subject></subj-group></article-categories><title-group><article-title>Аутосомно-рецессивная форма катаракты (CTRCT18) в Якутии: результаты молекулярно-генетических исследований</article-title><trans-title-group xml:lang="en"><trans-title>Autosomal recessive cataract (CTRCT18) in Yakutia: results of molecular genetic studies</trans-title></trans-title-group></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Барашков</surname><given-names>Н. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Barashkov</surname><given-names>N. A.</given-names></name></name-alternatives><email xlink:type="simple">barashkov2004@mail.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Коновалов</surname><given-names>Ф. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Konovalov</surname><given-names>F. A.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Чердонова</surname><given-names>А. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Cherdonova</surname><given-names>A. M.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Борисова</surname><given-names>Т. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Borisova</surname><given-names>T. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Соловьев</surname><given-names>А. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Solovyev</surname><given-names>A. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Терютин</surname><given-names>Ф. М.</given-names></name><name name-style="western" xml:lang="en"><surname>Teryutin</surname><given-names>F. M.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Пшенникова</surname><given-names>В. Г.</given-names></name><name name-style="western" xml:lang="en"><surname>Pshennikova</surname><given-names>V. G.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Сапожникова</surname><given-names>Н. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Sapozhnikova</surname><given-names>N. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Вычюжина</surname><given-names>Л. С.</given-names></name><name name-style="western" xml:lang="en"><surname>Vychuzhina</surname><given-names>L. S.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-4"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Бурцева</surname><given-names>Т. Е.</given-names></name><name name-style="western" xml:lang="en"><surname>Burtseva</surname><given-names>T. E.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Платонов</surname><given-names>Ф. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Platonov</surname><given-names>F. A.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-3"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Хуснутдинова</surname><given-names>Э. К.</given-names></name><name name-style="western" xml:lang="en"><surname>Khusnutdinova</surname><given-names>E. K.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-5"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Посух</surname><given-names>О. Л.</given-names></name><name name-style="western" xml:lang="en"><surname>Posukh</surname><given-names>O. L.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-6"/></contrib><contrib contrib-type="author" corresp="yes"><name-alternatives><name name-style="eastern" xml:lang="ru"><surname>Федорова</surname><given-names>С. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Fedorova</surname><given-names>S. A.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-1"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>Якутский научный центр комплексных медицинских проблем</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Yakut Scientific Centre for Complex Medical Problems</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>Лаборатория клинической биоинформатикии</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Laboratory of Clinical Bioinformatics</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-3"><aff xml:lang="ru"><institution>Северо-Восточный федеральный университет им. М.К. Аммосова</institution><country>Россия</country></aff><aff xml:lang="en"><institution>M.K. Ammosov North-East Federal University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-4"><aff xml:lang="ru"><institution>Республиканская больница №1 - Национальный центр медицины</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Republican Hospital No.1 - National Center of Medicine</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-5"><aff xml:lang="ru"><institution>Институт биохимии и генетики, Уфимский Федеральный исследовательский центр РАН</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Ufa Federal Research Center of the Russian Academy of Sciences, Institute of Biochemistry and Genetics</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-6"><aff xml:lang="ru"><institution>ФИЦ Институт цитологии и генетики СО РАН</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences</institution><country>Russian Federation</country></aff></aff-alternatives><pub-date pub-type="collection"><year>2020</year></pub-date><pub-date pub-type="epub"><day>26</day><month>11</month><year>2020</year></pub-date><volume>19</volume><issue>8</issue><fpage>35</fpage><lpage>37</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Барашков Н.А., Коновалов Ф.А., Чердонова А.М., Борисова Т.В., Соловьев А.В., Терютин Ф.М., Пшенникова В.Г., Сапожникова Н.В., Вычюжина Л.С., Бурцева Т.Е., Платонов Ф.А., Хуснутдинова Э.К., Посух О.Л., Федорова С.А., 2020</copyright-statement><copyright-year>2020</copyright-year><copyright-holder xml:lang="ru">Барашков Н.А., Коновалов Ф.А., Чердонова А.М., Борисова Т.В., Соловьев А.В., Терютин Ф.М., Пшенникова В.Г., Сапожникова Н.В., Вычюжина Л.С., Бурцева Т.Е., Платонов Ф.А., Хуснутдинова Э.К., Посух О.Л., Федорова С.А.</copyright-holder><copyright-holder xml:lang="en">Barashkov N.A., Konovalov F.A., Cherdonova A.M., Borisova T.V., Solovyev A.V., Teryutin F.M., Pshennikova V.G., Sapozhnikova N.V., Vychuzhina L.S., Burtseva T.E., Platonov F.A., Khusnutdinova E.K., Posukh O.L., Fedorova S.A.</copyright-holder><license xml:lang="ru" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>Данная работа распространяется под лицензией Creative Commons Attribution 4.0.</license-p></license><license xml:lang="en" license-type="creative-commons-attribution" xlink:href="https://creativecommons.org/licenses/by/4.0/" xlink:type="simple"><license-p>This work is licensed under a Creative Commons Attribution 4.0 License.</license-p></license></permissions><self-uri xlink:href="https://www.medgen-journal.ru/jour/article/view/1671">https://www.medgen-journal.ru/jour/article/view/1671</self-uri><abstract><p>В работе представлены результаты молекулярно-генетических исследований врожденной формы катаракты (CTRCT18, MIM 610019), распространенной в Якутии.</p></abstract><trans-abstract xml:lang="en"><p>We present the results of molecular genetic studies of the congenital cataract (CTRCT18, MIM 610019) common in the Sakha Republic of Russia.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>врожденная катаракта</kwd><kwd>ген FYCO1</kwd><kwd>якуты</kwd><kwd>эффект основателя</kwd><kwd>Восточная Сибирь</kwd></kwd-group><kwd-group xml:lang="en"><kwd>congenital cataract</kwd><kwd>FYCO1 gene</kwd><kwd>Yakuts</kwd><kwd>founder effect</kwd><kwd>Eastern Siberia</kwd></kwd-group></article-meta></front><back><ref-list><title>References</title></ref-list><fn-group><fn fn-type="conflict"><p>The authors declare that there are no conflicts of interest present.</p></fn></fn-group></back></article>
