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The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
scientific article
Author/s
author: Stefano C. Previtali, Mingyan Fang, Rosanna Asselta, Sonia Caccia, Raimondo De Cristofaro, Umberto Ambrosetti, Stefano Duga, Giulia Soldà
Work details
Publication date
September 3, 2014
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Language
English
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