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Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study

BACKGROUND: Genetic tests for hereditary hearing loss inform clinical management of patients and can provide the first step in the development of therapeutics. However, comprehensive genetic tests for deafness genes by Sanger sequencing is extremely expensive and time-consuming. Next-generation sequ...

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書目詳細資料
發表在:Orphanet J Rare Dis
Main Authors: Mutai, Hideki, Suzuki, Naohiro, Shimizu, Atsushi, Torii, Chiharu, Namba, Kazunori, Morimoto, Noriko, Kudoh, Jun, Kaga, Kimitaka, Kosaki, Kenjiro, Matsunaga, Tatsuo
格式: Artigo
語言:Inglês
出版: BioMed Central 2013
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4231469/
https://ncbi.nlm.nih.gov/pubmed/24164807
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-8-172
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