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A self-repair history: compensatory effect of a de novo variant on the FANCA c.2778+83C>G splicing mutation.
Persico, Ilaria; Fontana, Giorgia; Faleschini, Michela; Zanchetta, Melania Eva; Ammeti, Daniele; Cappelli, Enrico; Corsolini, Fabio; Mosa, Clara; Guarina, Angela; Bogliolo, Massimo; Surrallés, Jordi; Dufour, Carlo; Farruggia, Piero; Savoia, Anna; Bottega, Roberta.
Afiliação
  • Persico I; Department of Medical Sciences, University of Trieste, Trieste, Italy.
  • Fontana G; Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Faleschini M; Genomic Instability DNA Repair Syndromes Group, Joint Research Unit in Genomic Medicine UAB-IR Sant Pau, Sant Pau Biomedical Research Institute (IIB Sant Pau), Barcelona, Spain.
  • Zanchetta ME; Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", Trieste, Italy.
  • Ammeti D; Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", Trieste, Italy.
  • Cappelli E; Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", Trieste, Italy.
  • Corsolini F; Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", Trieste, Italy.
  • Mosa C; Hematology Unit, IRCCS Istituto "G. Gaslini"-Genoa, Genova, Italy.
  • Guarina A; LABSIEM-Laboratory for the Study of Inborn Errors of Metabolism-Pediatric Clinic and Endocrinology-IRCCS Istituto "G. Gaslini"-Genoa, Genova, Italy.
  • Bogliolo M; Pediatric Onco-Hematology, ARNAS Civico Hospital, Palermo, Italy.
  • Surrallés J; Pediatric Onco-Hematology, ARNAS Civico Hospital, Palermo, Italy.
  • Dufour C; Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Farruggia P; Genomic Instability DNA Repair Syndromes Group, Joint Research Unit in Genomic Medicine UAB-IR Sant Pau, Sant Pau Biomedical Research Institute (IIB Sant Pau), Barcelona, Spain.
  • Savoia A; Department of Genetics and Microbiology, Universitat Autònoma de Barcelona, Barcelona, Spain.
  • Bottega R; Genomic Instability DNA Repair Syndromes Group, Joint Research Unit in Genomic Medicine UAB-IR Sant Pau, Sant Pau Biomedical Research Institute (IIB Sant Pau), Barcelona, Spain.
Front Genet ; 14: 1209138, 2023.
Article em En | MEDLINE | ID: mdl-37547463
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Front Genet Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: Front Genet Ano de publicação: 2023 Tipo de documento: Article