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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.
Afiliação
  • 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 em En | MEDLINE | ID: mdl-31137068
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína Proteolipídica de Mielina / Doença de Pelizaeus-Merzbacher / Inativação do Cromossomo X Limite: Child, preschool / Female / Humans Idioma: En Revista: Neuropediatrics Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteína Proteolipídica de Mielina / Doença de Pelizaeus-Merzbacher / Inativação do Cromossomo X Limite: Child, preschool / Female / Humans Idioma: En Revista: Neuropediatrics Ano de publicação: 2019 Tipo de documento: Article