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Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families

BACKGROUND: Hereditary hearing loss is one of the most common heterogeneous disorders, and genetic variants that can cause hearing loss have been identified in over sixty genes. Most of these hearing loss genes have been detected using classical genetic methods, typically starting with linkage analy...

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Detalles Bibliográficos
Autores principales: Baek, Jeong-In, Oh, Se-Kyung, Kim, Dong-Bin, Choi, Soo-Young, Kim, Un-Kyung, Lee, Kyu-Yup, Lee, Sang-Heun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495859/
https://www.ncbi.nlm.nih.gov/pubmed/22938506
http://dx.doi.org/10.1186/1750-1172-7-60