Homozygous nonsense variant in associated with facioscapulohumeral muscular dystrophy.
Autor: | Kohei Hamanaka, Šikrová, Darina, Satomi Mitsuhashi, Hiroki Masuda, Yukari Sekiguchi, Atsuhiko Sugiyama, Kazumoto Shibuya, Lemmers, Richard J. L. F., Goossens, Remko, Megumu Ogawa, Koji Nagao, Chikashi Obuse, Satoru Noguchi, Hayashi, Yukiko K., Satoshi Kuwabara, Balog, Judit, Ichizo Nishino, van der Maarel, Silvère M., Hamanaka, Kohei, Mitsuhashi, Satomi |
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Zdroj: | Neurology; 6/9/2020, Vol. 94 Issue 23, pe2441-e2447, 7p |
Databáze: | Supplemental Index |
Externí odkaz: |