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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Detalhes bibliográficos
Main Authors: Wu, Chen-Chi, Lin, Yin-Hung, Lu, Ying-Chang, Chen, Pei-Jer, Yang, Wei-Shiung, Hsu, Chuan-Jen, Chen, Pei-Lung
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3579845/
https://ncbi.nlm.nih.gov/pubmed/23451214
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0057369
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