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A novel pathogenic variant c.975G>A (p.Trp325*) in the POU3F4 gene in Yakut family (Eastern Siberia, Russia) with the X-linked deafness-2 (DFNX2).
Barashkov, Nikolay A; Klarov, Leonid A; Teryutin, Fedor M; Solovyev, Aisen V; Pshennikova, Vera G; Konnikova, Edilia E; Romanov, Georgii P; Tobokhov, Alexander V; Morozov, Igor V; Bondar, Alexander A; Posukh, Olga L; Dzhemileva, Lilya U; Tomsky, Mikhail I; Khusnutdinova, Elza K; Fedorova, Sardana A.
Afiliación
  • Barashkov NA; Department of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation. Electronic address: barashkov2004@mail.ru.
  • Klarov LA; Department of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation; Department of Radiology, Republican Hospital #1- National Medical Centre, Ministry of Public Health of the Sakha Republic, Yakutsk, Russian Federation; Institute of Medicine, M.K. Ammosov
  • Teryutin FM; Department of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation.
  • Solovyev AV; Department of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation.
  • Pshennikova VG; Department of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation.
  • Konnikova EE; Institute of Medicine, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation.
  • Romanov GP; Department of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation.
  • Tobokhov AV; Institute of Medicine, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation.
  • Morozov IV; SB RAS Genomics Core Facility, Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation; Novosibirsk State University, Novosibirsk, Russian Federation.
  • Bondar AA; SB RAS Genomics Core Facility, Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation.
  • Posukh OL; Novosibirsk State University, Novosibirsk, Russian Federation; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, Russian Federation.
  • Dzhemileva LU; Laboratory of Human Molecular Genetics, Institute of Biochemistry and Genetics, Ufa Scientific Centre, Russian Academy of Sciences, Ufa, Russian Federation; Department of Immunology and Human Reproductive Health, Bashkir State Medical University, Ufa, Russian Federation.
  • Tomsky MI; Department of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation.
  • Khusnutdinova EK; Laboratory of Human Molecular Genetics, Institute of Biochemistry and Genetics, Ufa Scientific Centre, Russian Academy of Sciences, Ufa, Russian Federation; Department of Genetics and Fundamental Medicine, Bashkir State University, Ufa, Russian Federation.
  • Fedorova SA; Department of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yakutsk, Russian Federation; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Yakutsk, Russian Federation.
Int J Pediatr Otorhinolaryngol ; 104: 94-97, 2018 Jan.
Article en En | MEDLINE | ID: mdl-29287890
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Genéticas Ligadas al Cromosoma X / Factores del Dominio POU / Pérdida Auditiva Conductiva / Pérdida Auditiva Sensorineural / Oído Interno Límite: Child / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Int J Pediatr Otorhinolaryngol Año: 2018 Tipo del documento: Article Pais de publicación: Irlanda
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Enfermedades Genéticas Ligadas al Cromosoma X / Factores del Dominio POU / Pérdida Auditiva Conductiva / Pérdida Auditiva Sensorineural / Oído Interno Límite: Child / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Int J Pediatr Otorhinolaryngol Año: 2018 Tipo del documento: Article Pais de publicación: Irlanda