| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 6275927 | Neuroscience | 2011 | 9 Pages |
Abstract
â¶A mutational screening of AQP4 gene was performed on subjects with hearing loss. â¶D184E missense mutation was identified in a Spanish sporadic case. â¶D184E induces a significant reduction in water permeability. â¶D184E affects the mobility of AQP4 D loop. â¶D184E could confer a higher susceptibility to deafness.
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Authors
G.P. Nicchia, R. Ficarella, A. Rossi, I. Giangreco, O. Nicolotti, A. Carotti, F. Pisani, X. Estivill, P. Gasparini, M. Svelto, A. Frigeri,