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The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

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author: Umberto Ambrosetti  Sonia Caccia  Raimondo De Cristofaro  Rosanna Asselta  Mingyan Fang  Stefano C. Previtali  Stefano Duga  Giulia Soldà 

Publication date September 3, 2014
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