Hereditary hearing loss: a 96 gene targeted sequencing protocol reveals novel alleles in a series of Italian and Qatari patients.

Vozzi, D; Morgan, A; Vuckovic, D; D'Eustacchio, A; Abdulhadi, K; Rubinato, E; Badii, R; Gasparini, P; Girotto, G

Vozzi, D; Morgan, A; Vuckovic, D; D'Eustacchio, A; Abdulhadi, K; Rubinato, E; Badii, R; Gasparini, P; Girotto, G.

Afiliación

Vozzi D; Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy. Electronic address: diego.vozzi@burlo.trieste.it.
Morgan A; Department of Medical Sciences, University of Trieste, Italy.
Vuckovic D; Department of Medical Sciences, University of Trieste, Italy.
D'Eustacchio A; Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
Abdulhadi K; Audiology and Balance Unit, National Program for Early Detection of Hearing Loss, WH, Hamad Medical Corporation (HMC), Doha, Qatar.
Rubinato E; Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.
Badii R; Molecular Genetics Laboratory, Laboratory of Medicine and Pathology, Hamad Medical Corporation (HMC), Doha, Qatar.
Gasparini P; Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy; Department of Medical Sciences, University of Trieste, Italy.
Girotto G; Department of Medical Sciences, University of Trieste, Italy.

Gene ; 542(2): 209-16, 2014 Jun 01.

Article en En | MEDLINE | ID: mdl-24657061

Asunto(s)

Pérdida Auditiva/genética; Análisis de Secuencia de ADN/métodos; Alelos; Secuencia de Aminoácidos; Proteínas Portadoras/genética; Proteínas de la Matriz Extracelular/genética; Femenino; Proteínas Ligadas a GPI/genética; Pruebas Genéticas/métodos; Pérdida Auditiva/diagnóstico; Humanos; Italia; Masculino; Proteínas de la Membrana/genética; Datos de Secuencia Molecular; Mutación; Miosinas/genética; Proteínas de Neoplasias/genética; Linaje; Qatar; Serina Endopeptidasas/genética; Regiones no Traducidas

Palabras clave

Deafness; Hearing loss; Targeted sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Análisis de Secuencia de ADN / Pérdida Auditiva Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male País/Región como asunto: Asia / Europa Idioma: En Revista: Gene Año: 2014 Tipo del documento: Article Pais de publicación: Países Bajos

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