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Bi-Allelic Novel Variants in CLIC5 Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing Impairment.
Wonkam-Tingang, Edmond; Schrauwen, Isabelle; Esoh, Kevin K; Bharadwaj, Thashi; Nouel-Saied, Liz M; Acharya, Anushree; Nasir, Abdul; Adadey, Samuel M; Mowla, Shaheen; Leal, Suzanne M; Wonkam, Ambroise.
Afiliação
  • Wonkam-Tingang E; 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, Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA.
  • Esoh KK; 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, Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA.
  • Nouel-Saied LM; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA.
  • Acharya A; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA.
  • Nasir A; Synthetic Protein Engineering Lab (SPEL), Department of Molecular Science and Technology, Ajou University, Suwon 443-749, Korea.
  • Adadey SM; Division of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.
  • Mowla S; West African Centre for Cell Biology of Infectious Pathogens (WACCBIP), University of Ghana, Accra LG 54, Ghana.
  • Leal SM; Division of Haematology, Department of Pathology, Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.
  • Wonkam A; Center for Statistical Genetics, Sergievsky Center, Taub Institute for Alzheimer's Disease and the Aging Brain, and the Department of Neurology, Columbia University Medical Centre, New York, NY 10032, USA.
Genes (Basel) ; 11(11)2020 10 23.
Article em En | MEDLINE | ID: mdl-33114113

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canais de Cloreto / Predisposição Genética para Doença / Perda Auditiva Neurossensorial / Proteínas dos Microfilamentos Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Middle aged País/Região como assunto: Africa Idioma: En Revista: Genes (Basel) Ano de publicação: 2020 Tipo de documento: Article País de afiliação: África do Sul

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Canais de Cloreto / Predisposição Genética para Doença / Perda Auditiva Neurossensorial / Proteínas dos Microfilamentos Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Middle aged País/Região como assunto: Africa Idioma: En Revista: Genes (Basel) Ano de publicação: 2020 Tipo de documento: Article País de afiliação: África do Sul