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Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1
Travaglini, Lorena, Aiello, Chiara, Alesi, Viola, Loddo, Sara, Novelli, Antonio, Tozzi, Giulia, Bertini, Enrico, Leuzzi, Vincenzo, Brancati, FrancescoLanguage:
english
Journal:
Brain and Development
DOI:
10.1016/j.braindev.2016.08.010
Date:
September, 2016
File:
PDF, 96 KB
english, 2016