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A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia
Di Blasi, Claudia, Sansanelli, Serena, Ruggieri, Alessandra, Moriggi, Manuela, Vasso, Michele, D'Adamo, Adamo Pio, Blasevich, Flavia, Zanotti, Simona, Paolini, Cecilia, Protasi, Feliciano, Tezzon, FreLanguage:
english
Journal:
Journal of Medical Genetics
DOI:
10.1136/jmedgenet-2014-102882
Date:
July, 2015
File:
PDF, 4.31 MB
english, 2015