title: Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.
authors.affiliation: Department of Neurosciences, Laboratory of Molecular Medicine, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Lorena
authors.initials: L
authors.lastname: Travaglini
authors.affiliation: Department of Neurosciences, Laboratory of Molecular Medicine, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Aiello
authors.affiliation: Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Viola
authors.initials: V
authors.lastname: Alesi
authors.affiliation: Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Loddo
authors.affiliation: Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Novelli
authors.affiliation: Department of Neurosciences, Laboratory of Molecular Medicine, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Tozzi
authors.affiliation: Department of Neurosciences, Laboratory of Molecular Medicine, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.affiliation: Pediatric Neurology Division Department of Pediatrics, Child Neurology and Psychiatry, Sapienza-University of Rome, Rome, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Leuzzi
authors.affiliation: Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy; Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell'Immacolata IRCCS, Rome, Italy. Electronic address: francesco.brancati@univaq.it.
authors.forename: Francesco
authors.initials: F
authors.lastname: Brancati
mesh_terms: D002648:Child; D002878:Chromosomes, Human, Pair 1; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics*; D013869:Thiolester Hydrolases; D024182:Uniparental Disomy
chemical_list: D008565:Membrane Proteins; D013869:Thiolester Hydrolases; C416054:PPT1 protein, human