A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl−/H+-Exchanger, Causes Early-Onset Neurodegeneration
| Autor: | Polovitskaya, Maya M. 1, 2, 10, Barbini, Carlo 1, 2, 10, Martinelli, Diego 3, 10, Harms, Frederike L. 4, Cole, F. Sessions 5, Calligari, Paolo 6, Bocchinfuso, Gianfranco 6, Stella, Lorenzo 6, Ciolfi, Andrea 3, Niceta, Marcello 3, Rizza, Teresa 3, Shinawi, Marwan 7, Sisco, Kathleen 7, Johannsen, Jessika 8, Denecke, Jonas 8, Carrozzo, Rosalba 3, Wegner, Daniel J. 5, Kutsche, Kerstin 4, Tartaglia, Marco 3, 11, ∗, Jentsch, Thomas J. 1, 2, 9, 11, ∗∗ |
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| Zdroj: | In The American Journal of Human Genetics 3 December 2020 107(6):1062-1077 |
| Databáze: | ScienceDirect |
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