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Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy
OBJECTIVE: The purpose of this review was to evaluate the current literature on phosphoribosylpyrophosphate synthetase 1 (PRPS1)-related diseases and their consequences on hearing function. DESIGN: A literature search of peer-reviewed, published journal articles was conducted in online bibliographic...
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| 發表在: | Int J Audiol |
|---|---|
| Main Authors: | , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
2012
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4511087/ https://ncbi.nlm.nih.gov/pubmed/23190330 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3109/14992027.2012.736032 |
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