Your browser doesn't support javascript.
loading
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.
Pasquetti, Domizia; Marangi, Giuseppe; Orteschi, Daniela; Carapelle, Marina; L'Erario, Federica Francesca; Venditti, Romina; Maietta, Sabrina; Battaglia, Domenica Immacolata; Contaldo, Ilaria; Veredice, Chiara; Zollino, Marcella.
Afiliação
  • Pasquetti D; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
  • Marangi G; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
  • Orteschi D; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
  • Carapelle M; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
  • L'Erario FF; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
  • Venditti R; Child Neurology and Psychiatry Unit, Department of Neuroscience, Catholic University of the Sacred Heart, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
  • Maietta S; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
  • Battaglia DI; Child Neurology and Psychiatry Unit, Department of Neuroscience, Catholic University of the Sacred Heart, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
  • Contaldo I; Child Neurology and Psychiatry Unit, Department of Neuroscience, Catholic University of the Sacred Heart, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
  • Veredice C; Child Neurology and Psychiatry Unit, Department of Neuroscience, Catholic University of the Sacred Heart, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, 00168 Rome, Italy.
  • Zollino M; Unit of Medical Genetics, Section of Genomic Medicine, Department of Life Sciences and Public Health, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy.
Genes (Basel) ; 14(2)2023 01 17.
Article em En | MEDLINE | ID: mdl-36833170
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Lipofuscinoses Ceroides Neuronais Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Lipofuscinoses Ceroides Neuronais Tipo de estudo: Diagnostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Genes (Basel) Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália