Loss-of-function mutations in MYO15A and OTOF cause non-syndromic hearing loss in two Yemeni families.

Asaad, Maria; Mahfood, Mona; Al Mutery, Abdullah; Tlili, Abdelaziz

Asaad, Maria; Mahfood, Mona; Al Mutery, Abdullah; Tlili, Abdelaziz.

Afiliação

Asaad M; Department of Applied Biology, College of Sciences, University of Sharjah, Building W8 - Room 107, P.O. Box 27272, Sharjah, UAE.
Mahfood M; Department of Applied Biology, College of Sciences, University of Sharjah, Building W8 - Room 107, P.O. Box 27272, Sharjah, UAE.
Al Mutery A; Department of Applied Biology, College of Sciences, University of Sharjah, Building W8 - Room 107, P.O. Box 27272, Sharjah, UAE.
Tlili A; Human Genetics and Stem Cells Research Group, Research Institute of Sciences and Engineering, University of Sharjah, Sharjah, UAE.

Hum Genomics ; 17(1): 42, 2023 05 15.

Article em En | MEDLINE | ID: mdl-37189200

Assuntos

Surdez; Proteínas de Membrana; Miosinas; Surdez/genética; Mutação com Perda de Função; Proteínas de Membrana/genética; Miosinas/genética; Linhagem; Iêmen; Humanos

Palavras-chave

Clinical exome sequencing; Frameshift mutation; MYO15A gene; Non-syndromic hearing loss; OTOF gene; Splice site mutation; Target enrichment panel

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Miosinas / Surdez / Proteínas de Membrana Tipo de estudo: Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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