Biallelic MCM3AP mutations cause Charcot-Marie-Tooth neuropathy with variable clinical presentation.
作者信息
Karakaya Mert, Mazaheri Neda, Polat Ipek, Bharucha-Goebel Diana, Donkervoort Sandra, Maroofian Reza, Shariati Gholamreza, Hoelker Irmgard, Monaghan Kristin, Winchester Sara, Zori Robert, Galehdari Hamid, Bönnemann Carsten G, Yis Uluc, Wirth Brunhilde
机构信息
Institute of Human Genetics, Center for Molecular Medicine Cologne, Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany.
Department of Genetics, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.
出版信息
Brain. 2017 Oct 1;140(10):e65. doi: 10.1093/brain/awx222.
Abstract
摘要
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