The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria.

Parzefall, Thomas; Lucas, Trevor; Koenighofer, Martin; Ramsebner, Reinhard; Frohne, Alexandra; Czeiger, Shelly; Baumgartner, Wolf-Dieter; Schoefer, Christian; Gstoettner, Wolfgang; Frei, Klemens

Parzefall, Thomas; Lucas, Trevor; Koenighofer, Martin; Ramsebner, Reinhard; Frohne, Alexandra; Czeiger, Shelly; Baumgartner, Wolf-Dieter; Schoefer, Christian; Gstoettner, Wolfgang; Frei, Klemens.

Afiliação

Parzefall T; a Department of Otorhinolaryngology , Medical University of Vienna , Austria.
Lucas T; b Department for Cell- and Developmental Biology , Medical University of Vienna , Austria.
Koenighofer M; a Department of Otorhinolaryngology , Medical University of Vienna , Austria.
Ramsebner R; a Department of Otorhinolaryngology , Medical University of Vienna , Austria.
Frohne A; b Department for Cell- and Developmental Biology , Medical University of Vienna , Austria.
Czeiger S; b Department for Cell- and Developmental Biology , Medical University of Vienna , Austria.
Baumgartner WD; a Department of Otorhinolaryngology , Medical University of Vienna , Austria.
Schoefer C; b Department for Cell- and Developmental Biology , Medical University of Vienna , Austria.
Gstoettner W; a Department of Otorhinolaryngology , Medical University of Vienna , Austria.
Frei K; a Department of Otorhinolaryngology , Medical University of Vienna , Austria.

Acta Otolaryngol ; 137(4): 356-360, 2017 Apr.

Article em En | MEDLINE | ID: mdl-27827000

Assuntos

Conexinas/genética; Perda Auditiva Neurossensorial/genética; Processamento Alternativo; Áustria; Sequência de Bases; Estudos de Casos e Controles; Conexina 26; Éxons; Frequência do Gene; Testes Genéticos; Perda Auditiva Neurossensorial/congênito; Perda Auditiva Neurossensorial/diagnóstico; Heterozigoto; Humanos; Programas de Rastreamento; Polimorfismo Genético

Palavras-chave

Alternative transcription; DFNB1; GJB2; connexin 26; hereditary deafness; non-syndromic hearing impairment

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Conexinas / Perda Auditiva Neurossensorial Tipo de estudo: Clinical_trials / Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Humans País/Região como assunto: Europa Idioma: En Revista: Acta Otolaryngol Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Áustria

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