Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia

Marjolijn C J Jongmans, Illja J Diets, Paola Quarello, Emanuela Garelli, Roland P Kuiper, Rolph Pfundt

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)e607-e609
JournalHaematologica
Volume103
Issue number12
DOIs
Publication statusPublished - Dec 2018

Keywords

  • Anemia, Diamond-Blackfan/genetics
  • Base Sequence
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease/genetics
  • Humans
  • Infant
  • Mutation
  • Ribosomal Proteins/genetics

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