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A novel COLEC10 mutation in a child with 3MC syndrome.
Migliorero, Martina; Kalantari, Silvia; Bracciamà, Valeria; Sorbini, Monica; Arruga, Francesca; Peruzzi, Licia; Biamino, Elisa; Amoroso, Antonio; Vaisitti, Tiziana; Deaglio, Silvia.
Afiliação
  • Migliorero M; Department of Medical Sciences, University of Turin, Turin, Italy.
  • Kalantari S; Department of Medical Sciences, University of Turin, Turin, Italy; Immunogenetics and Transplant Biology Service, Città della Salute e della Scienza University Hospital, Turin, Italy.
  • Bracciamà V; Department of Medical Sciences, University of Turin, Turin, Italy; Immunogenetics and Transplant Biology Service, Città della Salute e della Scienza University Hospital, Turin, Italy.
  • Sorbini M; Department of Medical Sciences, University of Turin, Turin, Italy.
  • Arruga F; Department of Medical Sciences, University of Turin, Turin, Italy.
  • Peruzzi L; Pediatric Nephrology Dialysis and Transplantation Unit, Città della Salute e della Scienza University Hospital, Turin, Italy.
  • Biamino E; Department of Pediatrics, AOU Città della Salute e della Scienza di Torino, University of Turin, Turin, Italy.
  • Amoroso A; Department of Medical Sciences, University of Turin, Turin, Italy; Immunogenetics and Transplant Biology Service, Città della Salute e della Scienza University Hospital, Turin, Italy.
  • Vaisitti T; Department of Medical Sciences, University of Turin, Turin, Italy.
  • Deaglio S; Department of Medical Sciences, University of Turin, Turin, Italy; Immunogenetics and Transplant Biology Service, Città della Salute e della Scienza University Hospital, Turin, Italy. Electronic address: silvia.deaglio@unito.it.
Eur J Med Genet ; 64(12): 104374, 2021 Dec.
Article em En | MEDLINE | ID: mdl-34740859
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colectinas / Serina Proteases Associadas a Proteína de Ligação a Manose / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Colectinas / Serina Proteases Associadas a Proteína de Ligação a Manose / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2021 Tipo de documento: Article