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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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Bibliografske podrobnosti
Main Authors: Wu, Chen-Chi, Lin, Yin-Hung, Lu, Ying-Chang, Chen, Pei-Jer, Yang, Wei-Shiung, Hsu, Chuan-Jen, Chen, Pei-Lung
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2013
Teme:
Online dostop: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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