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Further characterisation of the recently described SLC26A4 c.918+2T>C mutation and reporting of a novel variant predicted to be damaging.
Gonçalves, A C; Santos, R; O'Neill, A; Escada, P; Fialho, G; Caria, H.
Afiliação
  • Gonçalves AC; BioISI - Biosystems & Integrative Sciences Institute, Faculty of Science of the University of Lisbon, Portugal, * Present address: UCL Ear Institute, London, United Kingdom;
  • Santos R; ENT-CHLO, HEM, ENT Service, Centro Hospitalar de Lisboa Ocidental EPE, Egas Moniz Hospital, Portugal;
  • O'Neill A; ENT-CHLO, HEM, ENT Service, Centro Hospitalar de Lisboa Ocidental EPE, Egas Moniz Hospital, Portugal;
  • Escada P; FCM/UNL, Department of Anatomy, Nova Medical School, New University of Lisbon, Portugal;
  • Fialho G; ENT-CHLO, HEM, ENT Service, Centro Hospitalar de Lisboa Ocidental EPE, Egas Moniz Hospital, Portugal;
  • Caria H; BioISI - Biosystems & Integrative Sciences Institute, Faculty of Science of the University of Lisbon, Portugal, * Present address: UCL Ear Institute, London, United Kingdom;
Acta Otorhinolaryngol Ital ; 36(3): 233-8, 2016 Jun.
Article em En | MEDLINE | ID: mdl-27214836
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Bócio Nodular / Perda Auditiva Neurossensorial / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Membrana Transportadoras / Bócio Nodular / Perda Auditiva Neurossensorial / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Middle aged Idioma: En Ano de publicação: 2016 Tipo de documento: Article