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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-1701</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>Вариабельность мутаций гена филаггрина у больных с вульгарным ихтиозом</article-title><trans-title-group xml:lang="en"><trans-title>Mutation variability in the filaggrin gene in patients with ichthyosis vulgaris</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>Живайкина</surname><given-names>Н. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Zhivaikina</surname><given-names>N. A.</given-names></name></name-alternatives><email xlink:type="simple">fallowtraveler5@gmail.com</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>Малютина</surname><given-names>Е. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Malyutina</surname><given-names>E. 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>Машкевич</surname><given-names>Д. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Mashkevich</surname><given-names>D. A.</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>Васильева</surname><given-names>М. А.</given-names></name><name name-style="western" xml:lang="en"><surname>Vasilyeva</surname><given-names>M. 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>Максимова</surname><given-names>Ю. В.</given-names></name><name name-style="western" xml:lang="en"><surname>Maksimova</surname><given-names>Yu. V.</given-names></name></name-alternatives><email xlink:type="simple">noemail@neicon.ru</email><xref ref-type="aff" rid="aff-2"/></contrib></contrib-group><aff-alternatives id="aff-1"><aff xml:lang="ru"><institution>ФГБОУ ВО Новосибирский государственный медицинский университет Минздрава России</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Novosibirsk state medical University</institution><country>Russian Federation</country></aff></aff-alternatives><aff-alternatives id="aff-2"><aff xml:lang="ru"><institution>ФГБОУ ВО Новосибирский государственный медицинский университет Минздрава России; ГБУЗ НСО «Городская клиническая больница №1»</institution><country>Россия</country></aff><aff xml:lang="en"><institution>Novosibirsk state medical University</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>105</fpage><lpage>106</lpage><permissions><copyright-statement>Copyright &amp;#x00A9; Живайкина Н.А., Малютина Е.В., Машкевич Д.А., Васильева М.А., Максимова Ю.В., 2020</copyright-statement><copyright-year>2020</copyright-year><copyright-holder xml:lang="ru">Живайкина Н.А., Малютина Е.В., Машкевич Д.А., Васильева М.А., Максимова Ю.В.</copyright-holder><copyright-holder xml:lang="en">Zhivaikina N.A., Malyutina E.V., Mashkevich D.A., Vasilyeva M.A., Maksimova Y.V.</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/1701">https://www.medgen-journal.ru/jour/article/view/1701</self-uri><abstract><p>Обследован 21 пациент с клиническими проявлениями вульгарного ихтиоза. Наиболее часто у них выявлялась мутация 2282del4 в гене FLG как в гомозиготном (у 6 больных), так и в гетерозиготном состояниях.</p></abstract><trans-abstract xml:lang="en"><p>We examined 21 patients with clinical manifestations of ichthyosis vulgaris. Most often, they had the 2282del4 mutation in the FLG gene both in homozygous (in 6 patients) and heterozygous states.</p></trans-abstract><kwd-group xml:lang="ru"><kwd>вульгарный ихтиоз</kwd><kwd>атопический дерматит</kwd></kwd-group><kwd-group xml:lang="en"><kwd>ichthyosis vulgaris</kwd><kwd>atopic dermatitis</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>
