Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene.

Ammar, Marwa; Tabebi, Mouna; Sfaihi, Lamia; Alila-Fersi, Olfa; Maalej, Marwa; Felhi, Rahma; Chabchoub, Imen; Keskes, Leila; Hachicha, Mongia; Fakhfakh, Faiza; Mkaouar-Rebai, Emna

Mutational screening in patients with profound sensorineural hearing loss and neurodevelopmental delay: Description of a novel m.3861A > C mitochondrial mutation in the MT-ND1 gene.

Ammar, Marwa; Tabebi, Mouna; Sfaihi, Lamia; Alila-Fersi, Olfa; Maalej, Marwa; Felhi, Rahma; Chabchoub, Imen; Keskes, Leila; Hachicha, Mongia; Fakhfakh, Faiza; Mkaouar-Rebai, Emna.

Afiliação

Ammar M; Human Molecular Genetics Laboratory, Faculty of Medicine of Sfax, University of Sfax, Tunisia.
Tabebi M; Human Molecular Genetics Laboratory, Faculty of Medicine of Sfax, University of Sfax, Tunisia.
Sfaihi L; Department of Pediatrics, C.H.U. Hedi Chaker, Tunisia.
Alila-Fersi O; Department of Life Sciences, Faculty of Sciences of Sfax, University of Sfax, Tunisia.
Maalej M; Human Molecular Genetics Laboratory, Faculty of Medicine of Sfax, University of Sfax, Tunisia.
Felhi R; Human Molecular Genetics Laboratory, Faculty of Medicine of Sfax, University of Sfax, Tunisia.
Chabchoub I; Department of Pediatrics, C.H.U. Hedi Chaker, Tunisia.
Keskes L; Human Molecular Genetics Laboratory, Faculty of Medicine of Sfax, University of Sfax, Tunisia.
Hachicha M; Department of Pediatrics, C.H.U. Hedi Chaker, Tunisia.
Fakhfakh F; Department of Life Sciences, Faculty of Sciences of Sfax, University of Sfax, Tunisia.
Mkaouar-Rebai E; Department of Life Sciences, Faculty of Sciences of Sfax, University of Sfax, Tunisia. Electronic address: emna.mkaouar@gmail.com.

Biochem Biophys Res Commun ; 474(4): 702-708, 2016 Jun 10.

Article em En | MEDLINE | ID: mdl-27155156

Assuntos

Análise Mutacional de DNA/métodos; DNA Mitocondrial/genética; Testes Genéticos/métodos; Perda Auditiva Neurossensorial/genética; NADH Desidrogenase/genética; Transtornos do Neurodesenvolvimento/genética; Criança; Feminino; Marcadores Genéticos/genética; Predisposição Genética para Doença/genética; Humanos; Masculino; Mitocôndrias/genética; Polimorfismo de Nucleotídeo Único/genética

Palavras-chave

Hearing loss; MT-ND1; Mitochondrial mutations; m.3861A > C; mtDNA

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Child / Female / Humans / Male Idioma: En Ano de publicação: 2016 Tipo de documento: Article

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