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DNA sequence analysis and genotype–phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy

OBJECTIVES: Aetiological assessment of 71 probands whose clinical presentation suggested a genetic syndrome or auditory neuropathy. METHODS: Sanger sequencing was performed on DNA isolated from peripheral blood or lymphoblastoid cell lines. Genes were selected for sequencing based on each patient�...

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Detalles Bibliográficos
Autores principales:	Tang, Hsiao-Yuan, Fang, Ping, Lin, Jerry W, Darilek, Sandra, Osborne, Brooke T, Haymond, Jo Ann, Manolidis, Spiros, Roa, Benjamin B, Oghalai, John S, Alford, Raye L
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2015
Materias:	Genetics and Genomics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442153/ https://www.ncbi.nlm.nih.gov/pubmed/25991456 http://dx.doi.org/10.1136/bmjopen-2014-007506

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