The expanding spectrum of PRPS1-associated phenotypes:...

European Journal of Human Genetics 2015 / 6 Vol. 23; Iss. 6

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

Robusto, Michela, Fang, Mingyan, Asselta, Rosanna, Castorina, Pierangela, Previtali, Stefano C, Caccia, Sonia, Benzoni, Elena, De Cristofaro, Raimondo, Yu, Cong, Cesarani, Antonio, Liu, Xuanzhu, Li, W
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Volume:
23
Language:
english
Journal:
European Journal of Human Genetics
DOI:
10.1038/ejhg.2014.168
Date:
June, 2015
File:
PDF, 1.50 MB
english, 2015
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