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Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia.
Jongmans, Marjolijn C J; Diets, Illja J; Quarello, Paola; Garelli, Emanuela; Kuiper, Roland P; Pfundt, Rolph.
Afiliação
  • Jongmans MCJ; Department of Human Genetics, Radboud university medical center and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands M.C.J.Jongmans-3@umcutrecht.nl.
  • Diets IJ; Department of Medical Genetics, University Medical Center Utrecht, the Netherlands.
  • Quarello P; Princess Máxima Center for Pediatric Oncology, Utrecht, the Netherlands.
  • Garelli E; Department of Human Genetics, Radboud university medical center and Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.
  • Kuiper RP; Paediatric Onco-Haematology, Stem Cell Transplantation and Cellular Therapy Division, Regina Margherita Children's Hospital, Torino, Italy.
  • Pfundt R; Department of Public Health and Paediatric Sciences, University of Torino, Italy.
Haematologica ; 103(12): e607-e609, 2018 12.
Article em En | MEDLINE | ID: mdl-30213830
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Ribossômicas / Predisposição Genética para Doença / Anemia de Diamond-Blackfan / Mutação Limite: Female / Humans / Infant Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Ribossômicas / Predisposição Genética para Doença / Anemia de Diamond-Blackfan / Mutação Limite: Female / Humans / Infant Idioma: En Ano de publicação: 2018 Tipo de documento: Article