Your browser doesn't support javascript.
loading
A novel IRF2BPL truncating variant is associated with endolysosomal storage.
Ginevrino, Monia; Battini, Roberta; Nuovo, Sara; Simonati, Alessandro; Micalizzi, Alessia; Contaldo, Ilaria; Serpieri, Valentina; Valente, Enza Maria.
Afiliação
  • Ginevrino M; Neurogenetics Unit, IRCCS Fondazione Santa Lucia, Rome, Italy.
  • Battini R; Department of Molecular Medicine, University of Pavia, via Forlanini 14, 27100, Pavia, Italy.
  • Nuovo S; IRCCS Stella Maris Foundation, Pisa, Italy.
  • Simonati A; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Micalizzi A; Neurogenetics Unit, IRCCS Fondazione Santa Lucia, Rome, Italy.
  • Contaldo I; Department of Medicine and Surgery, University of Salerno, Salerno, Italy.
  • Serpieri V; Department of Neuroscience, Biomedicine, Movement-Neurology (Child Neurology and Psychiatry, and Neuropathology), University of Verona, Verona, Italy.
  • Valente EM; Laboratory of Medical Genetics, Bambino Gesù Children's Hospital, Rome, Italy.
Mol Biol Rep ; 47(1): 711-714, 2020 Jan.
Article em En | MEDLINE | ID: mdl-31583567
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Proteínas de Transporte / Doenças por Armazenamento dos Lisossomos / Lisossomos Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Nucleares / Proteínas de Transporte / Doenças por Armazenamento dos Lisossomos / Lisossomos Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article