Identification and Clinical Implications of a Novel MYO15A Variant in a Consanguineous Iranian Family by Targeted Exome Sequencing.

Zarepour, Narges; Koohiyan, Mahbobeh; Taghipour-Sheshdeh, Afsaneh; Nemati-Zargaran, Fatemeh; Saki, Nader; Mohammadi-Asl, Javad; Tabatabaiefar, Mohammad Amin; Hashemzadeh-Chaleshtori, Morteza

Zarepour, Narges; Koohiyan, Mahbobeh; Taghipour-Sheshdeh, Afsaneh; Nemati-Zargaran, Fatemeh; Saki, Nader; Mohammadi-Asl, Javad; Tabatabaiefar, Mohammad Amin; Hashemzadeh-Chaleshtori, Morteza.

Afiliação

Zarepour N; Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Koohiyan M; Cancer Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Taghipour-Sheshdeh A; Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Nemati-Zargaran F; Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran.
Saki N; Hearing Research Center, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Mohammadi-Asl J; Department of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Tabatabaiefar MA; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Hashemzadeh-Chaleshtori M; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.

Audiol Neurootol ; 24(1): 25-31, 2019.

Article em En | MEDLINE | ID: mdl-30943474

Assuntos

Surdez/genética; Perda Auditiva Neurossensorial/genética; Miosinas/genética; Adolescente; Adulto; Audiometria de Tons Puros; Criança; Códon sem Sentido; Simulação por Computador; Consanguinidade; Exoma; Feminino; Ligação Genética; Sequenciamento de Nucleotídeos em Larga Escala; Humanos; Irã (Geográfico); Masculino; Linhagem; Análise de Sequência de DNA; Adulto Jovem

Palavras-chave

Autosomal recessive nonsyndromic hearing loss; DFNB loci; Genetic linkage analysis; Next-generation sequencing

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Miosinas / Surdez / Perda Auditiva Neurossensorial Tipo de estudo: Diagnostic_studies / Guideline / Prognostic_studies Limite: Adolescent / Adult / Child / Female / Humans / Male País como assunto: Asia Idioma: En Ano de publicação: 2019 Tipo de documento: Article

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