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

Target exon resequencing using Massively Parallel DNA Sequencing (MPS) is a new powerful strategy to discover causative genes in rare Mendelian disorders such as deafness. We attempted to identify genomic variations responsible for deafness by massive sequencing of the exons of 112 target candidate...

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Detalles Bibliográficos
Autores principales: Miyagawa, Maiko, Naito, Takehiko, Nishio, Shin-ya, Kamatani, Naoyuki, Usami, Shin-ichi
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/PMC3742761/
https://www.ncbi.nlm.nih.gov/pubmed/23967202
http://dx.doi.org/10.1371/journal.pone.0071381

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3742761/
https://www.ncbi.nlm.nih.gov/pubmed/23967202
http://dx.doi.org/10.1371/journal.pone.0071381

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