Two families with novel missense mutations in COL4A1: When diagnosis can be missed

Autor: Giorgio, Elisa, Vaula, Giovanna, Bosco, Giovanni, Giacone, Sara, Mancini, Cecilia, Calcia, Alessandro, Cavalieri, Simona, Di Gregorio, Eleonora, Rigault De Longrais, Roberta, Leombruni, Sabrina, Pinessi, Lorenzo, Cerrato, Paolo, Brusco, Alfredo, Brussino, Alessandro
Zdroj: In Journal of the Neurological Sciences 15 May 2015 352(1-2):99-104
Databáze: ScienceDirect