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Experience in Molecular Genetic Diagnostics of Birt-Hogg-Dubé Syndrome: Characteristics of Identified Mutations and Evolution of the Methodological Approach.

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Title: Experience in Molecular Genetic Diagnostics of Birt-Hogg-Dubé Syndrome: Characteristics of Identified Mutations and Evolution of the Methodological Approach.
Authors: Sermyagina IG; Research Centre for Medical Genetics, Moscow 115522, Russia., Mikhaylenko DS; Research Centre for Medical Genetics, Moscow 115522, Russia.; Institute of Translational Medicine and Biotechnology, I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow 119991, Russia., Kuryakova NB; Research Centre for Medical Genetics, Moscow 115522, Russia., Musatova VV; Research Centre for Medical Genetics, Moscow 115522, Russia., Solovova OA; Research Centre for Medical Genetics, Moscow 115522, Russia., Voskanyan AE; Research Centre for Medical Genetics, Moscow 115522, Russia., Bessonova LA; Research Centre for Medical Genetics, Moscow 115522, Russia., Melyanovskaya YL; Research Centre for Medical Genetics, Moscow 115522, Russia., Kondratyeva EI; Research Centre for Medical Genetics, Moscow 115522, Russia., Polyakov AV; Research Centre for Medical Genetics, Moscow 115522, Russia., Shchagina OA; Research Centre for Medical Genetics, Moscow 115522, Russia., Zaletaev DV; Research Centre for Medical Genetics, Moscow 115522, Russia., Kutsev SI; Research Centre for Medical Genetics, Moscow 115522, Russia., Strelnikov VV; Research Centre for Medical Genetics, Moscow 115522, Russia.
Source: International journal of molecular sciences [Int J Mol Sci] 2026 May 25; Vol. 27 (11). Date of Electronic Publication: 2026 May 25.
Publication Type: Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Experience in Molecular Genetic Diagnostics of Birt-Hogg-Dubé Syndrome: Characteristics of Identified Mutations and Evolution of the Methodological Approach.
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  Data: <searchLink fieldCode="AU" term="%22Sermyagina+IG%22">Sermyagina IG</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Mikhaylenko+DS%22">Mikhaylenko DS</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.; Institute of Translational Medicine and Biotechnology, I.M. Sechenov First Moscow State Medical University (Sechenov University), Moscow 119991, Russia.<br /><searchLink fieldCode="AU" term="%22Kuryakova+NB%22">Kuryakova NB</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Musatova+VV%22">Musatova VV</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Solovova+OA%22">Solovova OA</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Voskanyan+AE%22">Voskanyan AE</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Bessonova+LA%22">Bessonova LA</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Melyanovskaya+YL%22">Melyanovskaya YL</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Kondratyeva+EI%22">Kondratyeva EI</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Polyakov+AV%22">Polyakov AV</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Shchagina+OA%22">Shchagina OA</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Zaletaev+DV%22">Zaletaev DV</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Kutsev+SI%22">Kutsev SI</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.<br /><searchLink fieldCode="AU" term="%22Strelnikov+VV%22">Strelnikov VV</searchLink>; Research Centre for Medical Genetics, Moscow 115522, Russia.
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  Data: <searchLink fieldCode="JN" term="%22101092791%22">International journal of molecular sciences</searchLink> [Int J Mol Sci] 2026 May 25; Vol. 27 (11). <i>Date of Electronic Publication: </i>2026 May 25.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101092791 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1422-0067 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214220067%22">14220067 </searchLink><i>NLM ISO Abbreviation: </i>Int J Mol Sci <i>Subsets: </i>MEDLINE
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