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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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Guardat en:
Dades bibliogràfiques
Publicat a:Int J Audiol
Autors principals: Liu, Xue Zhong, Xie, Dinghua, Yuan, Hui Jun, de Brouwer, Arjan P. M., Christodoulou, John, Yan, Denise
Format: Artigo
Idioma:Inglês
Publicat: 2012
Matèries:
Accés en línia: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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