Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1

Publication date: February 2017
Source:Brain and Development, Volume 39, Issue 2
Author(s): Lorena Travaglini, Chiara Aiello, Viola Alesi, Sara Loddo, Antonio Novelli, Giulia Tozzi, Enrico Bertini, Vincenzo Leuzzi, Francesco Brancati




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