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Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.
Caciotti, Anna; Tonin, Rodolfo; Mort, Matthew; Cooper, David N; Gasperini, Serena; Rigoldi, Miriam; Parini, Rossella; Deodato, Federica; Taurisano, Roberta; Sibilio, Michelina; Parenti, Giancarlo; Guerrini, Renzo; Morrone, Amelia.
Afiliação
  • Caciotti A; Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Viale Pieraccini n. 24, 50139, Florence, Italy.
  • Tonin R; Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Viale Pieraccini n. 24, 50139, Florence, Italy.
  • Mort M; Dipartimento di Neuroscienze, Psicologia, Area del Farmaco e Salute del Bambino, University of Florence, Florence, Italy.
  • Cooper DN; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
  • Gasperini S; Institute of Medical Genetics, School of Medicine, Cardiff University, Cardiff, UK.
  • Rigoldi M; Metabolic Unit, San Gerardo Hospital, Monza, Milan, Italy.
  • Parini R; Metabolic Unit, San Gerardo Hospital, Monza, Milan, Italy.
  • Deodato F; Metabolic Unit, San Gerardo Hospital, Monza, Milan, Italy.
  • Taurisano R; Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Sibilio M; Division of Metabolism, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
  • Parenti G; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University of Naples, Naples, Italy.
  • Guerrini R; Department of Translational Medical Sciences, Section of Pediatrics, Federico II University of Naples, Naples, Italy.
  • Morrone A; Molecular and Cell Biology Laboratory of Neurometabolic Diseases, Paediatric Neurology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, Viale Pieraccini n. 24, 50139, Florence, Italy.
BMC Med Genet ; 19(1): 183, 2018 10 11.
Article em En | MEDLINE | ID: mdl-30305043
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: RNA Mensageiro / Splicing de RNA / Condroitina Sulfatases / Mucopolissacaridose IV / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: RNA Mensageiro / Splicing de RNA / Condroitina Sulfatases / Mucopolissacaridose IV / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Itália