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pro vyhledávání: '"Meir Mai-Zahav"'
Autor:
Elon Pras, Danit Oz-Levi, Shimon Edvardson, E.K. Ruzzo, Yair Anikster, Gali Heimer, Andreea Nissenkorn, Stavit A. Shalev, Channa Maayan, Orly Elpeleg, Amir Szeinberg, Eran Eyal, Ori Efrati, Haike Reznik-Wolf, Meir Mai-Zahav, David Goldstein, Doron Lancet, Bruria Ben Zeev
Publikováno v:
European Journal of Paediatric Neurology. 20:69-79
Background TECPR2 was first described as a disease causing gene when the c.3416delT frameshift mutation was found in five Jewish Bukharian patients with similar features. It was suggested to constitute a new subtype of complex hereditary spastic para