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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ISSN:1422-0067
DOI:10.3390/ijms27114731