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Spontaneous remission in a Diamond-Blackfan anaemia patient due to a revertant uniparental disomy ablating a de novo RPS19 mutation.
Garelli, Emanuela; Quarello, Paola; Giorgio, Elisa; Carando, Adriana; Menegatti, Elisa; Mancini, Cecilia; Di Gregorio, Eleonora; Crescenzio, Nicoletta; Palumbo, Orazio; Carella, Massimo; Dimartino, Paola; Pippucci, Tommaso; Dianzani, Irma; Ramenghi, Ugo; Brusco, Alfredo.
Affiliation
  • Garelli E; Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy.
  • Quarello P; Paediatric Onco-Haematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Turin, Italy.
  • Giorgio E; Department of Medical Sciences, University of Turin, Turin, Italy.
  • Carando A; Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy.
  • Menegatti E; Medical Genetics Unit, "Città della Salute e della Scienza" Hospital, Turin, Italy.
  • Mancini C; Department of Clinical and Biological Sciences, University of Turin, Turin, Italy.
  • Di Gregorio E; Department of Medical Sciences, University of Turin, Turin, Italy.
  • Crescenzio N; Medical Genetics Unit, "Città della Salute e della Scienza" Hospital, Turin, Italy.
  • Palumbo O; Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy.
  • Carella M; Division of Medical Genetics, IRCCS "Casa Sollievo della Sofferenza", San Giovanni Rotondo, Italy.
  • Dimartino P; Division of Medical Genetics, IRCCS "Casa Sollievo della Sofferenza", San Giovanni Rotondo, Italy.
  • Pippucci T; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy.
  • Dianzani I; Medical Genetics Unit, Polyclinic Sant'Orsola-Malpighi University Hospital, Bologna, Italy.
  • Ramenghi U; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.
  • Brusco A; Department of Public Health and Paediatric Sciences, University of Turin, Turin, Italy.
Br J Haematol ; 185(5): 994-998, 2019 06.
Article in En | MEDLINE | ID: mdl-30460677
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ribosomal Proteins / Anemia, Diamond-Blackfan / Uniparental Disomy Limits: Adult / Humans / Male Language: En Journal: Br J Haematol Year: 2019 Type: Article Affiliation country: Italy
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ribosomal Proteins / Anemia, Diamond-Blackfan / Uniparental Disomy Limits: Adult / Humans / Male Language: En Journal: Br J Haematol Year: 2019 Type: Article Affiliation country: Italy