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A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia.
Solovyev, Aisen V; Kushniarevich, Alena; Bliznetz, Elena; Bady-Khoo, Marita; Lalayants, Maria R; Markova, Tatiana G; Minárik, Gabriel; Kádasi, L'udevít; Metspalu, Ene; Pshennikova, Vera G; Teryutin, Fedor M; Khusnutdinova, Elza K; Poliakov, Alexander; Metspalu, Mait; Posukh, Olga L; Barashkov, Nikolay A; Fedorova, Sardana A.
Afiliación
  • Solovyev AV; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Kulakovskogo 46, 677010, Yakutsk, Russia.
  • Kushniarevich A; Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yaroslavskogo 6/3, 677019, Yakutsk, Russia.
  • Bliznetz E; Estonian Biocentre, Institute of Genomics, University of Tartu, Riia 23b, 51010, Tartu, Estonia.
  • Bady-Khoo M; Research Centre for Medical Genetics, Moskvorechye st., 1, 115478, Moscow, Russia.
  • Lalayants MR; Federal Research Center Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Prospekt Lavrentyeva 10, 630090, Novosibirsk, Russia.
  • Markova TG; National Research Centre for Audiology and Hearing Rehabilitation, Leninsky prospect 123, 117513, Moscow, Russia.
  • Minárik G; Russian Medical Academy of Continuing Professional Education, 2/1, Barikadnaya str, 123995, Moscow, Russia.
  • Kádasi L; National Research Centre for Audiology and Hearing Rehabilitation, Leninsky prospect 123, 117513, Moscow, Russia.
  • Metspalu E; Russian Medical Academy of Continuing Professional Education, 2/1, Barikadnaya str, 123995, Moscow, Russia.
  • Pshennikova VG; Institute of Molecular Biomedicine, Comenius University Faculty of Medicine, Sasinkova, 4811 08, Bratislava, Slovakia.
  • Teryutin FM; Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Dubravska cesta 9, 840 05, Bratislava, Slovakia.
  • Khusnutdinova EK; Estonian Biocentre, Institute of Genomics, University of Tartu, Riia 23b, 51010, Tartu, Estonia.
  • Poliakov A; Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yaroslavskogo 6/3, 677019, Yakutsk, Russia.
  • Metspalu M; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Kulakovskogo 46, 677010, Yakutsk, Russia.
  • Posukh OL; Laboratory of Molecular Genetics, Yakut Science Centre of Complex Medical Problems, Yaroslavskogo 6/3, 677019, Yakutsk, Russia.
  • Barashkov NA; Laboratory of Molecular Biology, Institute of Natural Sciences, M.K. Ammosov North-Eastern Federal University, Kulakovskogo 46, 677010, Yakutsk, Russia.
  • Fedorova SA; Laboratory of Human Molecular Genetics, Institute of Biochemistry and Genetics, Ufa Federal Research Centre of the Russian Academy of Sciences, October Avenue, 71, 450054, Ufa, Russia.
Hum Genet ; 141(3-4): 697-707, 2022 Apr.
Article en En | MEDLINE | ID: mdl-34839402
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Efecto Fundador / Sordera Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Alemania
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Efecto Fundador / Sordera Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Hum Genet Año: 2022 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Alemania