Targeted Exon Sequencing Successfully Discovers Rare Causative Genes and Clarifies the Molecular Epidemiology of Japanese Deafness Patients

Author:

Miyagawa Maiko,Naito Takehiko,Nishio Shin-ya,Kamatani Naoyuki,Usami Shin-ichi

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference26 articles.

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2. High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays. BMC Biotechnol;P Kothiyal,2010

3. Genotyping with a 198 mutation arrayed primer extension array for hereditary hearing loss: assessment of its diagnostic value for medical practice. PLoS One;J Rodriguez-Paris,2010

4. Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay. Genet Test;S Abe,2007

5. Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study. PLoS One;S Usami,2012

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