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Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.
Bliznetz, Elena A; Lalayants, Maria R; Markova, Tatiana G; Balanovsky, Oleg P; Balanovska, Elena V; Skhalyakho, Roza A; Pocheshkhova, Elvira A; Nikitina, Natalya V; Voronin, Sergey V; Kudryashova, Elena K; Glotov, Oleg S; Polyakov, Alexander V.
Afiliação
  • Bliznetz EA; The Federal Agency for Scientific Organizations, Federal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, Russia.
  • Lalayants MR; Federal Medical and Biological Agency, Federal State-Funded Institution of Science, National Research Center for Audiology and Hearing Rehabilitation, Moscow, Russia.
  • Markova TG; Federal Medical and Biological Agency, Federal State-Funded Institution of Science, National Research Center for Audiology and Hearing Rehabilitation, Moscow, Russia.
  • Balanovsky OP; The Federal Agency for Scientific Organizations, Federal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, Russia.
  • Balanovska EV; The Russian Academy of Sciences, Federal State-Funded Institution of Science, Vavilov Institute of General Genetics, Moscow, Russia.
  • Skhalyakho RA; The Federal Agency for Scientific Organizations, Federal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, Russia.
  • Pocheshkhova EA; The Federal Agency for Scientific Organizations, Federal State Budgetary Institution, Research Centre for Medical Genetics, Moscow, Russia.
  • Nikitina NV; The Russian Academy of Sciences, Federal State-Funded Institution of Science, Vavilov Institute of General Genetics, Moscow, Russia.
  • Voronin SV; The Ministry of Health, Federal State-Funded Educational Institution of Higher Education, Kuban State Medical University, Krasnodar, Russia.
  • Kudryashova EK; The Ministry of Health, State Budgetary Healthcare Institution, Clinical-Diagnostic Center of Mother and Child Health Protection, Yekaterinburg, Russia.
  • Glotov OS; State Autonomous Healthcare Institution, Regional Clinical Center of Specialized Medical Care, Vladivostok, Russia.
  • Polyakov AV; The Ministry of Health, State Budgetary Healthcare Institution, Leningrad Regional Clinical Hospital, Saint Petersburg, Russia.
J Hum Genet ; 62(8): 789-795, 2017 Aug.
Article em En | MEDLINE | ID: mdl-28405014
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Deleção de Sequência / Conexinas / Efeito Fundador / Perda Auditiva / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Male País/Região como assunto: Asia / Europa Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Federação Russa
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Deleção de Sequência / Conexinas / Efeito Fundador / Perda Auditiva / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Child, preschool / Female / Humans / Male País/Região como assunto: Asia / Europa Idioma: En Revista: J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Federação Russa