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A Monoallelic Variant in REST Is Associated with Non-Syndromic Autosomal Dominant Hearing Impairment in a South African Family.
Manyisa, Noluthando; Schrauwen, Isabelle; de Souza Rios, Leonardo Alves; Mowla, Shaheen; Tekendo-Ngongang, Cedrik; Popel, Kalinka; Esoh, Kevin; Bharadwaj, Thashi; Nouel-Saied, Liz M; Acharya, Anushree; Nasir, Abdul; Wonkam-Tingang, Edmond; Kock, Carmen de; Dandara, Collet; Leal, Suzanne M; Wonkam, Ambroise.
Afiliação
  • Manyisa N; Department of Medicine, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.
  • Schrauwen I; Center for Statistical Genetics, Sergievsky Center and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
  • de Souza Rios LA; Department of Pathology, Division of Haematology, Faculty of Health Sciences, University of Cape Town, Observatory, Cape Town 7925, South Africa.
  • Mowla S; Department of Pathology, Division of Haematology, Faculty of Health Sciences, University of Cape Town, Observatory, Cape Town 7925, South Africa.
  • Tekendo-Ngongang C; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Popel K; Department of Medicine, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.
  • Esoh K; Department of Medicine, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.
  • Bharadwaj T; Center for Statistical Genetics, Sergievsky Center and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
  • Nouel-Saied LM; Center for Statistical Genetics, Sergievsky Center and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
  • Acharya A; Center for Statistical Genetics, Sergievsky Center and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
  • Nasir A; Synthetic Protein Engineering Lab (SPEL), Department of Molecular Science and Technology, Ajou University, Suwon 443-749, Korea.
  • Wonkam-Tingang E; Department of Medicine, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.
  • Kock C; Department of Medicine, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.
  • Dandara C; Department of Medicine, Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.
  • Leal SM; Center for Statistical Genetics, Sergievsky Center and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
  • Wonkam A; Taub Institute for Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, New York, NY 10032, USA.
Genes (Basel) ; 12(11)2021 11 06.
Article em En | MEDLINE | ID: mdl-34828371
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Proteínas Proto-Oncogênicas / Substituição de Aminoácidos / Sequenciamento do Exoma / Perda Auditiva Neurossensorial / Proteínas de Neoplasias Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male País como assunto: Africa Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Proteínas Proto-Oncogênicas / Substituição de Aminoácidos / Sequenciamento do Exoma / Perda Auditiva Neurossensorial / Proteínas de Neoplasias Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male País como assunto: Africa Idioma: En Ano de publicação: 2021 Tipo de documento: Article