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P2X2 Dominant Deafness Mutations Have No Negative Effect on Wild-Type Isoform: Implications for Functional Rescue and in Deafness Mechanism
The P2X2 receptor is an ATP-gated ion channel, assembled by three subunits. Recently, it has been found that heterozygous mutations of P2X2 V60L and G353R can cause autosomal dominant nonsyndromic hearing loss. However, the underlying mechanism remains unclear. The fact that heterozygous mutations c...
Autores principales: | Zhu, Yan, Beudez, Juline, Yu, Ning, Grutter, Thomas, Zhao, Hong-Bo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5693881/ https://www.ncbi.nlm.nih.gov/pubmed/29180951 http://dx.doi.org/10.3389/fnmol.2017.00371 |
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