Your browser doesn't support javascript.
loading
Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation.
Scala, Marcello; Traverso, Monica; Capra, Valeria; Vari, Maria Stella; Severino, Mariasavina; Grossi, Serena; Zara, Federico; Striano, Pasquale; Minetti, Carlo.
  • Scala M; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Istituto Giannina Gaslini, Genoa, Italy.
  • Traverso M; Department of Neurosurgery, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Capra V; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Istituto Giannina Gaslini, Genoa, Italy.
  • Vari MS; Department of Neurosurgery, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Severino M; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Istituto Giannina Gaslini, Genoa, Italy.
  • Grossi S; Neuroradiology Unit, Neuroscience Department, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Zara F; Laboratory of Molecular Genetics and Biobank, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Striano P; Laboratory of Neurogenetics and Neuroscience, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Minetti C; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Istituto Giannina Gaslini, Genoa, Italy.
Neuropediatrics ; 50(4): 268-270, 2019 08.
Article en En | MEDLINE | ID: mdl-31137068
Asunto(s)
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteína Proteolipídica de la Mielina / Enfermedad de Pelizaeus-Merzbacher / Inactivación del Cromosoma X Límite: Child, preschool / Female / Humans Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteína Proteolipídica de la Mielina / Enfermedad de Pelizaeus-Merzbacher / Inactivación del Cromosoma X Límite: Child, preschool / Female / Humans Idioma: En Año: 2019 Tipo del documento: Article