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Clinical aspects of Fanconi anemia individuals with the same mutation of FANCF identified by next generation sequencing.
Nicchia, Elena; Benedicenti, Francesco; De Rocco, Daniela; Greco, Chiara; Bottega, Roberta; Inzana, Francesca; Faleschini, Michela; Bonin, Serena; Cappelli, Enrico; Mogni, Massimo; Stanzial, Franco; Svahn, Johanna; Dufour, Carlo; Savoia, Anna.
Afiliação
  • Nicchia E; Department of Medical Sciences, University of Trieste, Trieste, Italy.
  • Benedicenti F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
  • De Rocco D; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
  • Greco C; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
  • Bottega R; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy.
  • Inzana F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
  • Faleschini M; Department of Medical Sciences, University of Trieste, Trieste, Italy.
  • Bonin S; Department of Medical Sciences, University of Trieste, Trieste, Italy.
  • Cappelli E; Clinical and Experimental Hematology Unit, G. Gaslini Children's Hospital, Genoa, Italy.
  • Mogni M; Human Genetics Laboratory "E.O. Ospedali Galliera", Genoa, Italy.
  • Stanzial F; Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy.
  • Svahn J; Clinical and Experimental Hematology Unit, G. Gaslini Children's Hospital, Genoa, Italy.
  • Dufour C; Clinical and Experimental Hematology Unit, G. Gaslini Children's Hospital, Genoa, Italy.
  • Savoia A; Department of Medical Sciences, University of Trieste, Trieste, Italy.
Birth Defects Res A Clin Mol Teratol ; 103(12): 1003-10, 2015 Dec.
Article em En | MEDLINE | ID: mdl-26033879
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anemia de Fanconi / Sequenciamento de Nucleotídeos em Larga Escala / Mutação Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Male Idioma: En Revista: Birth Defects Res A Clin Mol Teratol Ano de publicação: 2015 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: Anemia de Fanconi / Sequenciamento de Nucleotídeos em Larga Escala / Mutação Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Male Idioma: En Revista: Birth Defects Res A Clin Mol Teratol Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Itália