Application of Massively Parallel Sequencing to Genetic Diagnosis in Multiplex Families with Idiopathic Sensorineural Hearing Impairment

Despite the clinical utility of genetic diagnosis to address idiopathic sensorineural hearing impairment (SNHI), the current strategy for screening mutations via Sanger sequencing suffers from the limitation that only a limited number of DNA fragments associated with common deafness mutations can be...

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Detalles Bibliográficos
Autores principales: Wu, Chen-Chi, Lin, Yin-Hung, Lu, Ying-Chang, Chen, Pei-Jer, Yang, Wei-Shiung, Hsu, Chuan-Jen, Chen, Pei-Lung
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3579845/
https://www.ncbi.nlm.nih.gov/pubmed/23451214
http://dx.doi.org/10.1371/journal.pone.0057369

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