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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מידע ביבליוגרפי
Main Authors: Miyagawa, Maiko, Naito, Takehiko, Nishio, Shin-ya, Kamatani, Naoyuki, Usami, Shin-ichi
פורמט: Artigo
שפה:Inglês
יצא לאור: Public Library of Science 2013
נושאים:
Research Article
גישה מקוונת:https://ncbi.nlm.nih.gov/pmc/articles/PMC3742761/
https://ncbi.nlm.nih.gov/pubmed/23967202
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0071381
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