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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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Bibliografiske detaljer
Main Authors: Miyagawa, Maiko, Naito, Takehiko, Nishio, Shin-ya, Kamatani, Naoyuki, Usami, Shin-ichi
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2013
Fag:
Online adgang: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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