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pro vyhledávání: '"Luciano Gervasi"'
Autor:
Rosa Giunta, Giovambattista Capasso, Giovanna Capolongo, Luciano Gervasi, Francesco Trepiccione, Miriam Zacchia, Gianpiero Toriello, Mariadelina Simeoni, Yoko Suzumoto, Valeria Columbano, Gabriele Trimarchi, Alessandra F. Perna, Teresa Mattina, Rosa Maria Pollastro, Francesco Rapisarda
Publikováno v:
Intractable & Rare Diseases Research. 10:95-101
EAST/SeSAME syndrome is a rare disease affecting the Central Nervous System (CNS), inner ear, and kidney. The syndrome is due to loss-of-function mutations in the KCNJ10 gene encoding the inward-rectifying potassium channel Kir4.1. EAST/SeSAME syndro