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

Next-generation sequencing is currently the technology of choice for gene/mutation discovery in genetically-heterogeneous disorders, such as inherited sensorineural hearing loss (HL). Whole-exome sequencing of a single Italian proband affected by non-syndromic HL identified a novel missense variant...

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Udgivet i:Eur J Hum Genet
Main Authors: 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, Wangsheng, Primignani, Paola, Ambrosetti, Umberto, Xu, Xun, Duga, Stefano, Soldà, Giulia
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2015
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4270732/
https://ncbi.nlm.nih.gov/pubmed/25182139
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2014.168
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